Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome

Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome

Abstract Background Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by pathogenic variants in the NHS gene on chromosome Xp22.2-Xp22.13. Clinical manifestations consist of congenital cataracts, along with dysmorphic facial features and dental anomalies and, in certain instance...

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Main Authors: Teng Huang, Ya-Nan Liu, Dan-Tong Ding, Qiao Wang, Qiu-Ling Xie, Xue-Chuan Miao, Chuan Qin, Xiu-Feng Huang, Jin Li
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Ophthalmology
Subjects:
Nance-Horan syndrome
NHS
Congenital cataracts
X-linked disease
Online Access:https://doi.org/10.1186/s12886-025-03933-z
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https://doi.org/10.1186/s12886-025-03933-z

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