Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

BACKGROUND: Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function varia...

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Publicat a:J Med Genet
Autors principals: Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A, Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E, Bitoun, Pierre, Kirk, Edwin P, Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R, Meynert, Alison
Format: Artigo
Idioma:Inglês
Publicat: 2023
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7615962/
https://ncbi.nlm.nih.gov/pubmed/38050128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg-2023-109181
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