Publications:

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

American Journal Of Human Genetics

Cheong, Sek-Shir SS; Hentschel, Lisa L; Davidson, Alice E AE; Gerrelli, Dianne D; Davie, Rebecca R; Rizzo, Roberta R; Pontikos, Nikolas N; Plagnol, Vincent V; Moore, Anthony T AT; Sowden, Jane C JC; Michaelides, Michel M; Snead, Martin M; Tuft, Stephen J SJ; Hardcastle, Alison J AJ

Publication Date: 2016-12-01

Variant appearance in text: CPAMD8: Gly1310_Glu1334del

PubMed Link: 27839872

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

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