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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

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Title: Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Authors: Pacot L; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France., Blok M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Vidaud D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France., Fertitta L; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France., Laurendeau I; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Coustier A; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France., Maillard T; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France., Barbance C; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France., Hadjadj D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Ye M; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Lallemand D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Ferkal S; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France., Funalot B; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France., Lunati-Rozie A; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France., Hebrard B; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France., Bhouri R; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France., Spruijt L; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Bessis D; Department of Dermatology and Reference Center for Rare Skin Diseases MAGEC-Sud Montpellier, Filière Maladies Rares Dermatologiques (FIMARAD), Saint-Eloi Hospital, and University of Montpellier, Montpellier, France., Geneviève D; Inserm U1183, Department of Clinical Genetics, Reference center for rare disease developmental anomaly and malformative syndrome, CHU Montpellier, and Montpellier University, Montpellier, France., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Broen MPG; Department of Neurology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre, Maastricht, The Netherlands., Sigaudy S; Department of Medical Genetics, Children's Hospital La Timone, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Odent S; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France., Damaj L; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France., Quélin C; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France., Pasquier L; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France., Layet V; Consultations de Génétique, Groupe Hospitalier du Havre, Le Havre, France., Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Poitiers, France., Nicolas G; Department of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Guerrot AM; Department of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Leheup B; Service de Génétique Médicale, Hôpitaux de Brabois, CHRU de Nancy, Vandoeuvre-lès-Nancy, France., Bursztejn AC; Department of Dermatology, CHRU Nancy, Vandoeuvre-lès-Nancy, France., Petit F; Clinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France., Boute-Bénéjean O; Clinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France., Capri Y; UF de Génétique Clinique, CHU Robert Debré, Paris, France., Guimier A; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France., Lyonnet S; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France., Baujat G; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France., Bourrat E; Department of Dermatology, MAGEC-Nord Hôpital Saint Louis, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France., Isidor B; Medical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France., Nizon M; Medical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France., Barbarot S; Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes University, Nantes, France., Toutain A; Department of Genetics, Bretonneau University Hospital, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France., Van-Gils J; Département de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Morice-Picard F; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France., Audebert-Bellanger S; Service de Pédiatrie et de Génétique Médicale, CHRU Morvan, Brest, France., Mazereeuw-Hautier J; Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France., Ziegler A; Department of Genetics, University Hospital of Toulouse, Toulouse, France., Alembik Y; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; UMR1231 GAD, Inserm, Université de Bourgogne, Dijon, France., Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France., Guerrini-Rousseau L; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Morera J; Department of Endocrinology and Diabetology, CHU Côte de Nacre, Caen, France., Paquis-Flucklinger V; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, CHU de Nice, Nice, France., Delobel B; Service de génétique médicale, GH de l'Institut Catholique de Lille, Lille, France., Alessandri JL; service de pédiatrie, CHU Féleix Guyon, Saint-Denis, France., Parfait B; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France., Wolkenstein P; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France., Pasmant E; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France eric.pasmant@inserm.fr.; Genetics Department, Institut Curie, Paris, France.
Corporate Authors: NF-France network
Source: Journal of medical genetics [J Med Genet] 2025 Nov 21; Vol. 62 (12), pp. 783-793. Date of Electronic Publication: 2025 Nov 21.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Pacot+L%22">Pacot L</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Blok+M%22">Blok M</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vidaud+D%22">Vidaud D</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fertitta+L%22">Fertitta L</searchLink>; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Laurendeau+I%22">Laurendeau I</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.<br /><searchLink fieldCode="AU" term="%22Coustier+A%22">Coustier A</searchLink>; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Maillard+T%22">Maillard T</searchLink>; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Barbance+C%22">Barbance C</searchLink>; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hadjadj+D%22">Hadjadj D</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ye+M%22">Ye M</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lallemand+D%22">Lallemand D</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ferkal+S%22">Ferkal S</searchLink>; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Funalot+B%22">Funalot B</searchLink>; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.<br /><searchLink fieldCode="AU" term="%22Lunati-Rozie+A%22">Lunati-Rozie A</searchLink>; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.<br /><searchLink fieldCode="AU" term="%22Hebrard+B%22">Hebrard B</searchLink>; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.<br /><searchLink fieldCode="AU" term="%22Bhouri+R%22">Bhouri R</searchLink>; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Spruijt+L%22">Spruijt L</searchLink>; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bessis+D%22">Bessis D</searchLink>; Department of Dermatology and Reference Center for Rare Skin Diseases MAGEC-Sud Montpellier, Filière Maladies Rares Dermatologiques (FIMARAD), Saint-Eloi Hospital, and University of Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Geneviève+D%22">Geneviève D</searchLink>; Inserm U1183, Department of Clinical Genetics, Reference center for rare disease developmental anomaly and malformative syndrome, CHU Montpellier, and Montpellier University, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Vernimmen+V%22">Vernimmen V</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Broen+MPG%22">Broen MPG</searchLink>; Department of Neurology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sigaudy+S%22">Sigaudy S</searchLink>; Department of Medical Genetics, Children's Hospital La Timone, Assistance Publique des Hôpitaux de Marseille, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Odent+S%22">Odent S</searchLink>; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Damaj+L%22">Damaj L</searchLink>; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Quélin+C%22">Quélin C</searchLink>; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Pasquier+L%22">Pasquier L</searchLink>; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Layet+V%22">Layet V</searchLink>; Consultations de Génétique, Groupe Hospitalier du Havre, Le Havre, France.<br /><searchLink fieldCode="AU" term="%22Gilbert-Dussardier+B%22">Gilbert-Dussardier B</searchLink>; Service de Génétique, CHU de Poitiers, Poitiers, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Department of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Guerrot+AM%22">Guerrot AM</searchLink>; Department of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Leheup+B%22">Leheup B</searchLink>; Service de Génétique Médicale, Hôpitaux de Brabois, CHRU de Nancy, Vandoeuvre-lès-Nancy, France.<br /><searchLink fieldCode="AU" term="%22Bursztejn+AC%22">Bursztejn AC</searchLink>; Department of Dermatology, CHRU Nancy, Vandoeuvre-lès-Nancy, France.<br /><searchLink fieldCode="AU" term="%22Petit+F%22">Petit F</searchLink>; Clinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Boute-Bénéjean+O%22">Boute-Bénéjean O</searchLink>; Clinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Capri+Y%22">Capri Y</searchLink>; UF de Génétique Clinique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Guimier+A%22">Guimier A</searchLink>; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lyonnet+S%22">Lyonnet S</searchLink>; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Baujat+G%22">Baujat G</searchLink>; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bourrat+E%22">Bourrat E</searchLink>; Department of Dermatology, MAGEC-Nord Hôpital Saint Louis, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Medical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Medical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Barbarot+S%22">Barbarot S</searchLink>; Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes University, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Department of Genetics, Bretonneau University Hospital, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.<br /><searchLink fieldCode="AU" term="%22Blesson+S%22">Blesson S</searchLink>; Department of Genetics, Bretonneau University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Van-Gils+J%22">Van-Gils J</searchLink>; Département de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Morice-Picard+F%22">Morice-Picard F</searchLink>; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Audebert-Bellanger+S%22">Audebert-Bellanger S</searchLink>; Service de Pédiatrie et de Génétique Médicale, CHRU Morvan, Brest, France.<br /><searchLink fieldCode="AU" term="%22Mazereeuw-Hautier+J%22">Mazereeuw-Hautier J</searchLink>; Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; Department of Genetics, University Hospital of Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Alembik+Y%22">Alembik Y</searchLink>; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Piard+J%22">Piard J</searchLink>; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; UMR1231 GAD, Inserm, Université de Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Brischoux-Boucher+E%22">Brischoux-Boucher E</searchLink>; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Guerrini-Rousseau+L%22">Guerrini-Rousseau L</searchLink>; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Morera+J%22">Morera J</searchLink>; Department of Endocrinology and Diabetology, CHU Côte de Nacre, Caen, France.<br /><searchLink fieldCode="AU" term="%22Paquis-Flucklinger+V%22">Paquis-Flucklinger V</searchLink>; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, CHU de Nice, Nice, France.<br /><searchLink fieldCode="AU" term="%22Delobel+B%22">Delobel B</searchLink>; Service de génétique médicale, GH de l'Institut Catholique de Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Alessandri+JL%22">Alessandri JL</searchLink>; service de pédiatrie, CHU Féleix Guyon, Saint-Denis, France.<br /><searchLink fieldCode="AU" term="%22Parfait+B%22">Parfait B</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Wolkenstein+P%22">Wolkenstein P</searchLink>; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Pasmant+E%22">Pasmant E</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France eric.pasmant@inserm.fr.; Genetics Department, Institut Curie, Paris, France.
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      – TitleFull: Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
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            – D: 21
              M: 11
              Text: 2025 Nov 21
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1468-6244
          Numbering:
            – Type: volume
              Value: 62
            – Type: issue
              Value: 12
          Titles:
            – TitleFull: Journal of medical genetics
              Type: main
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