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AB044. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

BACKGROUND: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder. Around 95% of CAH cases are caused by deficiency of the enzyme 21-OH. CYP21A2 gene located on the short arm of chromosome 6 (6p21.3) encodes the protein enzyme 21-OH. METHODS:...

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書目詳細資料
發表在:Ann Transl Med
Main Authors: Nguyen, Mai Thi Phuong, Nguyen, Mai
格式: Artigo
語言:Inglês
出版: AME Publishing Company 2017
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641735/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s044
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