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Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
Kor, Yilmaz; Zou, Minjing; Al-Rijjal, Roua A; Monies, Dorota; Meyer, Brian F; Shi, Yufei.
Afiliação
  • Kor Y; Pediatric Endocrinology Division, Ministry of Health, Adana Public Hospitals Association, Adana City Hospital, Adana, Turkey.
  • Zou M; Department of Genetics (MBC-03), King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Al-Rijjal RA; Department of Genetics (MBC-03), King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Monies D; Department of Genetics (MBC-03), King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Meyer BF; Department of Genetics (MBC-03), King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Shi Y; Department of Genetics (MBC-03), King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh, 11211, Saudi Arabia. yufei@kfshrc.edu.sa.
BMC Med Genet ; 19(1): 115, 2018 07 11.
Article em En | MEDLINE | ID: mdl-29996815
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperplasia Suprarrenal Congênita / Diabetes Insípido Nefrogênico Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperplasia Suprarrenal Congênita / Diabetes Insípido Nefrogênico Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article