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Delineating the expanding phenotype associated with SCAPER gene mutation

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Bibliographic Details
Published in:	American journal of medical genetics. Part A 2019-08, Vol.179 (8), p.1665-1671
Main Authors:	Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J., Hull, Sarah, Lane, Amelia, Robson, Anthony G., Wenger, Olivia, Self, Jay E., Harlalka, Gaurav V., Salter, Claire G., Schema, Lynn, Moss, Timothy J., Cheetham, Michael E., Moore, Anthony T., Raymond, F. Lucy, Chen, Rui, Baple, Emma L., Webster, Andrew R., Crosby, Andrew H.
Format:	Article
Language:	English
Subjects:	Adolescent Adult Brachydactyly Carrier Proteins - genetics CCNA2–CDK2 Child Consanguinity DNA Mutational Analysis Female Genetic Association Studies - methods Genetic Predisposition to Disease Humans Intellectual disability Male Middle Aged Mutation Pedigree Phenotype Phenotypes Point mutation Research Letter Research Letters Retinitis pigmentosa SCAPER Young Adult
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