Delineating the expanding phenotype associated with SCAPER gene mutation.

Title	Delineating the expanding phenotype associated with SCAPER gene mutation.
Publication Type	Journal Article
Year of Publication	2019
Authors	Fasham, J, Arno, G, Lin, S, Xu, M, Carss, KJ, Hull, S, Lane, A, Robson, AG, Wenger, O, Self, JE, Harlalka, GV, Salter, CG, Schema, L, Moss, TJ, Cheetham, ME, Moore, AT, F Raymond, L, Chen, R, Baple, EL, Webster, AR, Crosby, AH
Corporate Authors	NIHR Bioresource Rare Diseases Consortium
Journal	Am J Med Genet A
Volume	179
Issue	8
Pagination	1665-1671
Date Published	2019 Aug
ISSN	1552-4833
Keywords	Adolescent, Adult, Carrier Proteins, Child, Consanguinity, DNA Mutational Analysis, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Young Adult
DOI	10.1002/ajmg.a.61202
Alternate Journal	Am J Med Genet A
PubMed ID	31192531
PubMed Central ID	PMC6772143
Grant List	/ FFB / Foundation Fighting Blindness / United States S10 OD023469 / OD / NIH HHS / United States R01 EY022356 / EY / NEI NIH HHS / United States P30 EY002520 / EY / NEI NIH HHS / United States R01 EY018571 / EY / NEI NIH HHS / United States 1511/1512 / / Fight for Sight UK / International 2027 / / Fight for Sight UK / International G1002279 / MRC_ / Medical Research Council / United Kingdom / / Retina UK / International / / Moorfields Eye Charity / International G1001931 / MRC_ / Medical Research Council / United Kingdom