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

Yazhou Huang,Linya Ma, Zhaoxia Zhang,Shujuan Nie, Yuan Zhou,Jibo Zhang,Chao Wang, Xingxin Fang,Yingting Quan, Ting He,Anhui Liu,Dan Peng

Molecular genetics & genomic medicine（2023）

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Abstract
Our findings broaden the spectrum of NHS mutations and provide molecular insight into NHS clinical prenatal genetic diagnosis.
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Key words
Nance-Horan syndrome,X chromosome inactivation,copy number variation sequencing,dense congenital cataracts,genetic counseling
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