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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden, Geeske M; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A; Baban, Anwar; Bassetti, Jennifer A; van Bever, Yolande; Bird, Lynne M; van Bon, Bregje W; Brooks, Alice S; Guan, Qiaoning; Klee, Eric W; Marcelis, Carlo; Rosado, Joel M; Schimmenti, Lisa A; Shikany, Amy R; Terhal, Paulien A; Nicole Weaver, Kathryn; Wessels, Marja W; van Wieringen, Hester; Hurst, Anna C; Gooch, Catherine F; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet.
Afiliação
  • van Woerden GM; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Senden R; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
  • de Konink C; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Trezza RA; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
  • Baban A; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Bassetti JA; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
  • van Bever Y; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Bird LM; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
  • van Bon BW; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Brooks AS; Division of Medical Genetics, Weill Cornell Medicine, New York City, New York, USA.
  • Guan Q; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
  • Klee EW; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Marcelis C; Department of Pediatrics, University of California San Diego, San Diego, California, USA.
  • Rosado JM; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA.
  • Schimmenti LA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Shikany AR; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
  • Terhal PA; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Nicole Weaver K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Wessels MW; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • van Wieringen H; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Hurst AC; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
  • Gooch CF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Steindl K; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Joset P; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
  • Rauch A; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Tartaglia M; Department of Otorhinolaryngology Head and Neck Surgery, Ophthalmology, Clinical Genomics, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA.
  • Niceta M; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Elgersma Y; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Demirdas S; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Hum Mutat ; 43(10): 1377-1395, 2022 10.
Article em En | MEDLINE | ID: mdl-35730652
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de Noonan Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de Noonan Idioma: En Ano de publicação: 2022 Tipo de documento: Article