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

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 insertions....

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Detalles Bibliográficos
Autores principales: Huang, Yazhou, Ma, Linya, Zhang, Zhaoxia, Nie, Shujuan, Zhou, Yuan, Zhang, Jibo, Wang, Chao, Fang, Xingxin, Quan, Yingting, He, Ting, Liu, Anhui, Peng, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938751/
https://www.ncbi.nlm.nih.gov/pubmed/36370055
http://dx.doi.org/10.1002/mgg3.2100

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