Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree

Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree

ABSTRACT Background High sequence homology between CYP21A2 and CYP21A1P poses challenges to genetic diagnosis of congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency (21‐OHD). Traditional genetic testing is unable to provide an accurate diagnosis due to the genetic complexity of CAH...

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Main Authors: Ximin Chen, Jing Zhao, Danhua Li, Na Xi, Danying Yi, Mengjia Yan, Yan Yin, Xueyan Wang
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
compound heterozygote
congenital adrenal hyperplasia
long‐read sequencing
prenatal diagnosis
Online Access:https://doi.org/10.1002/mgg3.70029
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https://doi.org/10.1002/mgg3.70029

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