Associated Papers
Epilepsy in NHS actin remodeling regulator gene (NHS) and genotype-phenotype correlations.
Zhang KL et al.
Pediatric Research, 2025
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
Ling C et al.
Bmc Medical Genetics, 2019
30642278 (PubMed )
Supplement: 12881_2018_725_MOESM4_ESM.xlsx › Sheet1
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.
Tian Q et al.
Bmc Medical Genetics, 2017
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
Hong N et al.
Journal of Zhejiang University. Science. B, 2014
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.
Ding X et al.
Ophthalmic Genetics, 2009
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.
Sharma S et al.
Molecular Vision, 2008
Identification of three novel NHS mutations in families with Nance-Horan syndrome.
Huang KM et al.
Molecular Vision, 2007
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
Sharma S et al.
Human Molecular Genetics, 2006
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
Ramprasad VL et al.
Investigative Ophthalmology & Visual Science, 2005
Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
Gómez-Laguna L et al.
Ophthalmic Genetics, 0
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