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Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality.
Elpidorou, Marilena; Best, Sunayna; Poulter, James A; Hartill, Verity; Hobson, Emma; Sheridan, Eamonn; Johnson, Colin A.
Afiliação
  • Elpidorou M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK.
  • Best S; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK.
  • Poulter JA; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, West Yorkshire, UK.
  • Hartill V; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK.
  • Hobson E; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK.
  • Sheridan E; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, West Yorkshire, UK.
  • Johnson CA; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, West Yorkshire, UK.
J Med Genet ; 58(5): 334-341, 2021 05.
Article em En | MEDLINE | ID: mdl-32571899
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtornos do Neurodesenvolvimento / Mutação com Perda de Função / Genes Letais Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtornos do Neurodesenvolvimento / Mutação com Perda de Função / Genes Letais Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article