Associated Papers
Epilepsy in NHS actin remodeling regulator gene (NHS) and genotype-phenotype correlations.
Zhang KL et al.
Pediatric Research, 2025
40817290 (PubMed )
Supplement: 41390_2025_4335_MOESM2_ESM.xlsx › Sheet1
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
Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.
Ding X et al.
Ophthalmic Genetics, 2009
Identification of three novel NHS mutations in families with Nance-Horan syndrome.
Huang KM et al.
Molecular Vision, 2007
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP et al.
American Journal of Human Genetics, 2003
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
Select a paper to view details