View in EDS

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Saved in:
Bibliographic Details
Title: Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.
Authors: Jost C; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Mussa A; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Torino, Italy., Kurtz JE; Département d'hématologie et d'oncologie, Institut de cancérologie Strasbourg Europe (ICANS), Strasbourg, France., Gokhul A; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden., Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, Department of Diagnostic Medicine, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Carli D; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Torino, Italy., Gazzin A; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy., Isella C; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy., Medico E; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy., Cassisa A; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy., Cantarella D; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy., Naicker T; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa., Chateau A; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa., Demoulin JB; De Duve Institute, Université Catholique de Louvain, Brussels, Belgium., Herold N; Division of Pediatric Oncology and Hematology, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Pediatric Oncology, Karolinska University Hospital Solna, Stockholm, Sweden., Bouhatous YM; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Mirakovska L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Maurer A; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Gaumet T; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Wenger T; Division of Medical Genetics, University of Washington, Seattle, USA., Iznardo H; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., Baselga E; Pediatric Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Spain., Mascaro JM; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., Bredrup C; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway., Kildal OA; Department of Pediatrics, Telemark Hospital, Skien, Norway., Gladkauskas T; Department of Clinical Medicine, University of Bergen, Bergen, Norway., Rustad CF; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Svinvik IV; Department of Pediatrics, Oslo University Hospital, Oslo, Norway., Pond D; Genetics Clinic, Children's Hospitals & Clinics of Minnesota, Minneapolis, USA., Schaefer E; Department of Medical Genetics, IGMA, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Luu M; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, Centre d'Investigations Cliniques Plurithématique 803 (CIC-P 803), Dijon, France., Bardou M; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, Centre d'Investigations Cliniques Plurithématique 803 (CIC-P 803), Dijon, France., Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France. laurence.faivre@chu-dijon.fr.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 08. Date of Electronic Publication: 2026 Jul 08.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42420563
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Jost+C%22">Jost C</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Mussa+A%22">Mussa A</searchLink>; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Kurtz+JE%22">Kurtz JE</searchLink>; Département d'hématologie et d'oncologie, Institut de cancérologie Strasbourg Europe (ICANS), Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Gokhul+A%22">Gokhul A</searchLink>; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.<br /><searchLink fieldCode="AU" term="%22Nordgren+A%22">Nordgren A</searchLink>; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Kalantari+S%22">Kalantari S</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, Department of Diagnostic Medicine, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Gazzin+A%22">Gazzin A</searchLink>; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Isella+C%22">Isella C</searchLink>; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy.<br /><searchLink fieldCode="AU" term="%22Medico+E%22">Medico E</searchLink>; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy.<br /><searchLink fieldCode="AU" term="%22Cassisa+A%22">Cassisa A</searchLink>; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy.<br /><searchLink fieldCode="AU" term="%22Cantarella+D%22">Cantarella D</searchLink>; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy.<br /><searchLink fieldCode="AU" term="%22Naicker+T%22">Naicker T</searchLink>; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.<br /><searchLink fieldCode="AU" term="%22Chateau+A%22">Chateau A</searchLink>; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.<br /><searchLink fieldCode="AU" term="%22Demoulin+JB%22">Demoulin JB</searchLink>; De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Herold+N%22">Herold N</searchLink>; Division of Pediatric Oncology and Hematology, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Pediatric Oncology, Karolinska University Hospital Solna, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Bouhatous+YM%22">Bouhatous YM</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Mirakovska+L%22">Mirakovska L</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Maurer+A%22">Maurer A</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Gaumet+T%22">Gaumet T</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Wenger+T%22">Wenger T</searchLink>; Division of Medical Genetics, University of Washington, Seattle, USA.<br /><searchLink fieldCode="AU" term="%22Iznardo+H%22">Iznardo H</searchLink>; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Baselga+E%22">Baselga E</searchLink>; Pediatric Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Mascaro+JM%22">Mascaro JM</searchLink>; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Bredrup+C%22">Bredrup C</searchLink>; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Kildal+OA%22">Kildal OA</searchLink>; Department of Pediatrics, Telemark Hospital, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Gladkauskas+T%22">Gladkauskas T</searchLink>; Department of Clinical Medicine, University of Bergen, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Department of Medical Genetics, Telemark Hospital, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Svinvik+IV%22">Svinvik IV</searchLink>; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Pond+D%22">Pond D</searchLink>; Genetics Clinic, Children's Hospitals & Clinics of Minnesota, Minneapolis, USA.<br /><searchLink fieldCode="AU" term="%22Schaefer+E%22">Schaefer E</searchLink>; Department of Medical Genetics, IGMA, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Luu+M%22">Luu M</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, Centre d'Investigations Cliniques Plurithématique 803 (CIC-P 803), Dijon, France.<br /><searchLink fieldCode="AU" term="%22Bardou+M%22">Bardou M</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, Centre d'Investigations Cliniques Plurithématique 803 (CIC-P 803), Dijon, France.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France. laurence.faivre@chu-dijon.fr.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Jul 08. <i>Date of Electronic Publication: </i>2026 Jul 08.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42420563
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41431-026-02153-3
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Jost C
      – PersonEntity:
          Name:
            NameFull: Mussa A
      – PersonEntity:
          Name:
            NameFull: Kurtz JE
      – PersonEntity:
          Name:
            NameFull: Gokhul A
      – PersonEntity:
          Name:
            NameFull: Nordgren A
      – PersonEntity:
          Name:
            NameFull: Kalantari S
      – PersonEntity:
          Name:
            NameFull: Carli D
      – PersonEntity:
          Name:
            NameFull: Gazzin A
      – PersonEntity:
          Name:
            NameFull: Isella C
      – PersonEntity:
          Name:
            NameFull: Medico E
      – PersonEntity:
          Name:
            NameFull: Cassisa A
      – PersonEntity:
          Name:
            NameFull: Cantarella D
      – PersonEntity:
          Name:
            NameFull: Naicker T
      – PersonEntity:
          Name:
            NameFull: Chateau A
      – PersonEntity:
          Name:
            NameFull: Demoulin JB
      – PersonEntity:
          Name:
            NameFull: Herold N
      – PersonEntity:
          Name:
            NameFull: Bouhatous YM
      – PersonEntity:
          Name:
            NameFull: Mirakovska L
      – PersonEntity:
          Name:
            NameFull: Maurer A
      – PersonEntity:
          Name:
            NameFull: Gaumet T
      – PersonEntity:
          Name:
            NameFull: Wenger T
      – PersonEntity:
          Name:
            NameFull: Iznardo H
      – PersonEntity:
          Name:
            NameFull: Baselga E
      – PersonEntity:
          Name:
            NameFull: Mascaro JM
      – PersonEntity:
          Name:
            NameFull: Bredrup C
      – PersonEntity:
          Name:
            NameFull: Kildal OA
      – PersonEntity:
          Name:
            NameFull: Gladkauskas T
      – PersonEntity:
          Name:
            NameFull: Rustad CF
      – PersonEntity:
          Name:
            NameFull: Svinvik IV
      – PersonEntity:
          Name:
            NameFull: Pond D
      – PersonEntity:
          Name:
            NameFull: Schaefer E
      – PersonEntity:
          Name:
            NameFull: Luu M
      – PersonEntity:
          Name:
            NameFull: Bardou M
      – PersonEntity:
          Name:
            NameFull: Faivre L
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 08
              M: 07
              Text: 2026 Jul 08
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1476-5438
          Titles:
            – TitleFull: European journal of human genetics : EJHG
              Type: main
ResultId 1