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An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).
Dimitri, Paul; De Franco, Elisa; Habeb, Abdelhadi M; Gurbuz, Fatih; Moussa, Khairya; Taha, Doris; Wales, Jerry K H; Hogue, Jacob; Slavotinek, Anne; Shetty, Ambika; Balasubramanian, Meena.
Afiliação
  • Dimitri P; Department of Paediatric Endocrinology, Sheffield Children's NHS Foundation Trust, United Kingdom.
  • De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, United Kingdom.
  • Habeb AM; Paediatric Department, Prince Mohamed Bin Abdulaziz Hospital, NGHA, Al-Madina, NGHA, Kingdom of Saudi Arabia.
  • Gurbuz F; Ankara Pediatric Hematology Oncology Education and Training Hospital, Ankara, Turkey.
  • Moussa K; Paediatric Department, Maternity and Children Hospital, Jeddah, Kingdom of Saudi Arabia.
  • Taha D; Division of Pediatric Endocrinology, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan.
  • Wales JK; Department of Paediatric Endocrinology and Diabetes, Lady Cilento Children's Hospital, South Brisbane, Queensland, Australia.
  • Hogue J; Department of Paediatrics, Madigan Army Medical Center, Tacoma, Washington.
  • Slavotinek A; Institute for Human Genetics, University of California, San Francisco, California.
  • Shetty A; Department of Paediatrics, Nevill Hall Hospital, Abergavenny, Wales, United Kingdom.
  • Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, United Kingdom.
Am J Med Genet A ; 170(7): 1918-23, 2016 07.
Article em En | MEDLINE | ID: mdl-27148679
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Hipotireoidismo Congênito / Diabetes Mellitus / Doenças Renais Policísticas Tipo de estudo: Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Hipotireoidismo Congênito / Diabetes Mellitus / Doenças Renais Policísticas Tipo de estudo: Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article