Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Anterior segment dysgeneses (ASDs) comprise a spectrum of developmental disorders affecting the anterior segment of the eye. Here, we describe three unrelated families affected by a previously unclassified form of ASD. Shared ocular manifestations include bilateral iris hypoplasia, ectopia lentis, c...

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Detalles Bibliográficos
Autores principales: Cheong, Sek-Shir, Hentschel, Lisa, Davidson, Alice E., Gerrelli, Dianne, Davie, Rebecca, Rizzo, Roberta, Pontikos, Nikolas, Plagnol, Vincent, Moore, Anthony T., Sowden, Jane C., Michaelides, Michel, Snead, Martin, Tuft, Stephen J., Hardcastle, Alison J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142107/
https://www.ncbi.nlm.nih.gov/pubmed/27839872
http://dx.doi.org/10.1016/j.ajhg.2016.09.022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142107/
https://www.ncbi.nlm.nih.gov/pubmed/27839872
http://dx.doi.org/10.1016/j.ajhg.2016.09.022

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