Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

CONTEXT: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or bef...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: New, Maria I., Tong, Yu K., Yuen, Tony, Jiang, Peiyong, Pina, Christian, Chan, K. C. Allen, Khattab, Ahmed, Liao, Gary J. W., Yau, Mabel, Kim, Se-Min, Chiu, Rossa W. K., Sun, Li, Zaidi, Mone, Lo, Y. M. Dennis
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2014
Témata:
Hot Topics in Translational Endocrinology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4037720/
https://ncbi.nlm.nih.gov/pubmed/24606108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-1118
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky