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A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.
Brunet, Theresa; Westphal, Dominik S; Weber, Sandrina; Juenger, Hendrik; Vlaho, Stefan; Hoefele, Julia; Meitinger, Thomas; Rieger-Fackeldey, Esther; Wagner, Matias.
Afiliação
  • Brunet T; Institute of Human Genetics, Technical University of Munich, Munich, Germany. Electronic address: theresa.brunet@mri.tum.de.
  • Westphal DS; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Weber S; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Juenger H; Department of Pediatrics, Technical University of Munich, Munich, Germany.
  • Vlaho S; Department of Pediatrics, Altoetting-Burghausen, Altoetting, Germany.
  • Hoefele J; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Meitinger T; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Rieger-Fackeldey E; Department of Pediatrics, Technical University of Munich, Munich, Germany.
  • Wagner M; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.
Gene ; 742: 144542, 2020 Jun 05.
Article em En | MEDLINE | ID: mdl-32184166
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miosinas / Anormalidades Craniofaciais / Proteínas Supressoras de Tumor / Síndrome de Klippel-Feil / Hipotonia Muscular Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miosinas / Anormalidades Craniofaciais / Proteínas Supressoras de Tumor / Síndrome de Klippel-Feil / Hipotonia Muscular Idioma: En Ano de publicação: 2020 Tipo de documento: Article