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Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene
Demiral, Meliha; Demirbilek, Hüseyin; Unal, Edip; Durmaz, Ceren Damla; Ceylaner, Serdar; Özbek, Mehmet Nuri.
Afiliação
  • Demiral M; Gazi Yasargil Training and Research Hospital, Clinics of Paediatric Endocrinology, Diyarbakir, Turkey
  • Demirbilek H; Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology, Ankara, Turkey
  • Unal E; Gazi Yasargil Training and Research Hospital, Clinics of Paediatric Endocrinology, Diyarbakir, Turkey
  • Durmaz CD; Gazi Yasargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakir, Turkey
  • Ceylaner S; Intergen Genetic Diagnosis Center, Clinic of Medical Genetics, Ankara, Turkey
  • Özbek MN; Gazi Yasargil Training and Research Hospital, Clinics of Paediatric Endocrinology, Diyarbakir, Turkey
J Clin Res Pediatr Endocrinol ; 12(3): 319-328, 2020 09 02.
Article em En | MEDLINE | ID: mdl-31782289
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Proteínas Nucleares / Proteína Gli2 com Dedos de Zinco / Hipopituitarismo Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Proteínas Nucleares / Proteína Gli2 com Dedos de Zinco / Hipopituitarismo Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article