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Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants.
Templeton, Kerra M; Thompson, Louise; Tobias, Edward S; Ahmed, S Faisal; McGowan, Ruth.
Afiliação
  • Templeton KM; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow.
  • Thompson L; South East of Scotland Genetics Service, Western General Hospital, Edinburgh.
  • Tobias ES; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow.
  • Ahmed SF; Academic Unit of Medical Genetics and Clinical Pathology, University of Glasgow, Queen Elizabeth University Hospital.
  • McGowan R; Child Health, School of Medicine, Dentistry and Nursing Studies, University of Glasgow, Royal Hospital for Children, Glasgow, UK.
Clin Dysmorphol ; 33(1): 38-42, 2024 Jan 01.
Article em En | MEDLINE | ID: mdl-38038056
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Coloboma / Ubiquitina-Proteína Ligases Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Coloboma / Ubiquitina-Proteína Ligases Idioma: En Ano de publicação: 2024 Tipo de documento: Article