Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme. This gene is susceptible to deletions and duplications due to th...

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Váldodahkkit:	Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Wolters Kluwer Medknow Publications 2022-01-01
Ráidu:	Indian Pediatrics Case Reports
Fáttát:	cyp21a1p multiplex ligation-dependent probe amplification pseudogene rccx variant
Liŋkkat:	http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=1;spage=47;epage=51;aulast=Dubey
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