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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
Javadiyan, Shari; Craig, Jamie E; Sharma, Shiwani; Lower, Karen M; Casey, Theresa; Haan, Eric; Souzeau, Emmanuelle; Burdon, Kathryn P.
Afiliação
  • Javadiyan S; Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, Australia. shahra_80@yahoo.com.
  • Craig JE; Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, Australia.
  • Sharma S; Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, Australia.
  • Lower KM; Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia.
  • Casey T; Ophthalmology Department, Women's and Children's Hospital, Adelaide, Australia.
  • Haan E; SA Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, Australia.
  • Souzeau E; School of Medicine, University of Adelaide, Adelaide, Australia.
  • Burdon KP; Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, Australia.
BMC Med Genet ; 18(1): 52, 2017 05 08.
Article em En | MEDLINE | ID: mdl-28482824
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Catarata / Deficiências do Desenvolvimento / Mutação de Sentido Incorreto / Fatores de Transcrição Maf / Perda Auditiva Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Catarata / Deficiências do Desenvolvimento / Mutação de Sentido Incorreto / Fatores de Transcrição Maf / Perda Auditiva Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article