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Identification of a novel microdeletion causative of Nance-Horan syndrome.
Lopez Martinolich M, Northrup H, Mancias P, Hillman P, Rao K, Mowrey K. Lopez Martinolich M, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1879. doi: 10.1002/mgg3.1879. Epub 2022 Feb 5. Mol Genet Genomic Med. 2022. PMID: 35122698 Free PMC article.
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. ...
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by ophthalmologic and dental a …
A novel Xp22.13 microdeletion in Nance-Horan syndrome.
Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V. Accogli A, et al. Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2. Birth Defects Res. 2017. PMID: 28464487
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been repor …
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, …
Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.
Lewis RA, Nussbaum RL, Stambolian D. Lewis RA, et al. Ophthalmology. 1990 Jan;97(1):110-20; discussion 120-1. doi: 10.1016/s0161-6420(90)32644-1. Ophthalmology. 1990. PMID: 1969135
The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies. ...
The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, micro …