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Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.
Bayat, Allan; Krett, Bjørg; Dunø, Morten; Torring, Pernille Mathiesen; Vissing, John.
Afiliação
  • Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
  • Krett B; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Dunø M; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Torring PM; Department of Clinical Genetics, Molecular Genetic Laboratory, University Hospital Copenhagen, Copenhagen, Denmark.
  • Vissing J; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Am J Med Genet A ; 188(7): 2251-2257, 2022 07.
Article em En | MEDLINE | ID: mdl-35388608
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas da Mão / Fatores de Troca do Nucleotídeo Guanina 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: Deformidades Congênitas da Mão / Fatores de Troca do Nucleotídeo Guanina Idioma: En Ano de publicação: 2022 Tipo de documento: Article