Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation

Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation

Abstract Background Nance–Horan syndrome (NHS) is a rare and often overlooked X‐linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift mutations, nonsense mutations, microdeletions, and ins...

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Bibliographic Details
Main Authors: Yazhou Huang, Linya Ma, Zhaoxia Zhang, Shujuan Nie, Yuan Zhou, Jibo Zhang, Chao Wang, Xingxin Fang, Yingting Quan, Ting He, Anhui Liu, Dan Peng
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
copy number variation sequencing
dense congenital cataracts
genetic counseling
Nance–Horan syndrome
X chromosome inactivation
Online Access:https://doi.org/10.1002/mgg3.2100

Internet

https://doi.org/10.1002/mgg3.2100

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