Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

Microphthalmia, coloboma and cataract are part of a spectrum of developmental eye disorders in humans affecting ~12 per 100 000 live births. Currently, variants in over 100 genes are known to underlie these conditions. However, at least 40% of affected individuals remain without a clinical genetic d...

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Dettagli Bibliografici
Pubblicato in:Hum Mol Genet
Autori principali: Zha, Congyao, Farah, Carole A, Holt, Richard J, Ceroni, Fabiola, Al-Abdi, Lama, Thuriot, Fanny, Khan, Arif O, Helaby, Rana, Lévesque, Sébastien, Alkuraya, Fowzan S, Kraus, Alison, Ragge, Nicola K, Sossin, Wayne S
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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General Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7645705/
https://ncbi.nlm.nih.gov/pubmed/32885237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa198
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