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

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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Bibliographic Details
Main Authors: Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Pediatrics Case Reports
Subjects:
cyp21a1p
multiplex ligation-dependent probe amplification
pseudogene
rccx
variant
Online Access: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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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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