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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

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Title: Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Authors: Mastromoro G; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy., Santoro C; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli' Naples, Italy; Clinic of Child and Adolescent Neuropsychiatry, Department of Physical and Mental Health, and Preventive Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Motta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Sorrentino U; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy., Daniele P; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Peduto C; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy; Department of Medical Genetics, AP-HP, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Petrizzelli F; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Tripodi M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Pinna V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy., Rotundo G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Bellacchio E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Lepri F; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Farina A; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy., D'Asdia MC; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Biagini T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Petracca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Castori M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy., Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico,' Tricase, Italy., Traficante G; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Tarani L; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy., Fontana P; Medical Genetics Unit - P.O. Gaetano Rummo-A.O.R.N. San Pio, Benevento, Italy., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Paparella R; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy., Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Scala I; Department of Maternal and Child Health, Section of Pediatrics, Federico II University, Naples, Italy., Dentici ML; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Trevisan V; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Cecconi A; Ambulatorio Integrato di Genetica Medica, USL Toscana Centro, Florence, Italy., Giustini S; Unit of Dermatology, Department of Internal Medicine and Medical Specialties, 'La Sapienza' University of Rome, Rome, Italy., Pizzuti A; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy., Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy., Novelli A; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Genuardi M; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Department of Laboratory and Infectious Science, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy., Digilio MC; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Papi L; Department of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy., Perrotta S; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli' Naples, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Castellanos E; Clinical Genomics Research Group, Germans Trias i Pujol Research Institute (IGTP), Can Ruti Campus, Badalona, Barcelona, Spain; Clinical Genomics Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Germans Trias i Pujol University Hospital (HGTP), Can Ruti Campus, Badalona, Barcelona, Spain., Mazza T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy; Institute of Pediatric Research IRP, Fondazione Città della Speranza, Padua, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Piluso G; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: a.deluca@css-mendel.it.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101241. Date of Electronic Publication: 2024 Aug 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
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  Data: <searchLink fieldCode="AU" term="%22Mastromoro+G%22">Mastromoro G</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Santoro+C%22">Santoro C</searchLink>; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli' Naples, Italy; Clinic of Child and Adolescent Neuropsychiatry, Department of Physical and Mental Health, and Preventive Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Motta+M%22">Motta M</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Sorrentino+U%22">Sorrentino U</searchLink>; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Daniele+P%22">Daniele P</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Peduto+C%22">Peduto C</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy; Department of Medical Genetics, AP-HP, Hôpital Universitaire Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Petrizzelli+F%22">Petrizzelli F</searchLink>; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Tripodi+M%22">Tripodi M</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Pinna+V%22">Pinna V</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zanobio+M%22">Zanobio M</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Rotundo+G%22">Rotundo G</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bellacchio+E%22">Bellacchio E</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Lepri+F%22">Lepri F</searchLink>; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Farina+A%22">Farina A</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22D'Asdia+MC%22">D'Asdia MC</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Piceci-Sparascio+F%22">Piceci-Sparascio F</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Biagini+T%22">Biagini T</searchLink>; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Petracca+A%22">Petracca A</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Castori+M%22">Castori M</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Melis+D%22">Melis D</searchLink>; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy.<br /><searchLink fieldCode="AU" term="%22Accadia+M%22">Accadia M</searchLink>; Medical Genetics Service, Hospital 'Cardinale G. Panico,' Tricase, Italy.<br /><searchLink fieldCode="AU" term="%22Traficante+G%22">Traficante G</searchLink>; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Tarani+L%22">Tarani L</searchLink>; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Fontana+P%22">Fontana P</searchLink>; Medical Genetics Unit - P.O. Gaetano Rummo-A.O.R.N. San Pio, Benevento, Italy.<br /><searchLink fieldCode="AU" term="%22Sirchia+F%22">Sirchia F</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Paparella+R%22">Paparella R</searchLink>; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Currò+A%22">Currò A</searchLink>; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.<br /><searchLink fieldCode="AU" term="%22Benedicenti+F%22">Benedicenti F</searchLink>; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.<br /><searchLink fieldCode="AU" term="%22Scala+I%22">Scala I</searchLink>; Department of Maternal and Child Health, Section of Pediatrics, Federico II University, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Dentici+ML%22">Dentici ML</searchLink>; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Leoni+C%22">Leoni C</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Trevisan+V%22">Trevisan V</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Cecconi+A%22">Cecconi A</searchLink>; Ambulatorio Integrato di Genetica Medica, USL Toscana Centro, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Giustini+S%22">Giustini S</searchLink>; Unit of Dermatology, Department of Internal Medicine and Medical Specialties, 'La Sapienza' University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pizzuti+A%22">Pizzuti A</searchLink>; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Salviati+L%22">Salviati L</searchLink>; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zampino+G%22">Zampino G</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zenker+M%22">Zenker M</searchLink>; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Genuardi+M%22">Genuardi M</searchLink>; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Department of Laboratory and Infectious Science, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Digilio+MC%22">Digilio MC</searchLink>; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Papi+L%22">Papi L</searchLink>; Department of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Perrotta+S%22">Perrotta S</searchLink>; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Nigro+V%22">Nigro V</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Castellanos+E%22">Castellanos E</searchLink>; Clinical Genomics Research Group, Germans Trias i Pujol Research Institute (IGTP), Can Ruti Campus, Badalona, Barcelona, Spain; Clinical Genomics Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Germans Trias i Pujol University Hospital (HGTP), Can Ruti Campus, Badalona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Mazza+T%22">Mazza T</searchLink>; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Trevisson+E%22">Trevisson E</searchLink>; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy; Institute of Pediatric Research IRP, Fondazione Città della Speranza, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net.<br /><searchLink fieldCode="AU" term="%22Piluso+G%22">Piluso G</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy.<br /><searchLink fieldCode="AU" term="%22De+Luca+A%22">De Luca A</searchLink>; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: a.deluca@css-mendel.it.
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            NameFull: Mazza T
      – PersonEntity:
          Name:
            NameFull: Trevisson E
      – PersonEntity:
          Name:
            NameFull: Tartaglia M
      – PersonEntity:
          Name:
            NameFull: Piluso G
      – PersonEntity:
          Name:
            NameFull: De Luca A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: 2024 Nov
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 26
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1