Title

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

Document Type

Journal Article

Publication Date

3-1-2017

Journal

American journal of medical genetics. Part A

Volume

173

Issue

3

Inclusive Pages

611-617

DOI

10.1002/ajmg.a.38069

Keywords

Adolescent; Agenesis of Corpus Callosum; Anus, Imperforate; Child; Child, Preschool; Constipation; Facies; Female; Gene Expression; Genetic Association Studies; Guanylate Kinases; High-Throughput Nucleotide Sequencing; Humans; In Situ Hybridization, Fluorescence; Male; Mental Retardation, X-Linked; Muscle Hypotonia; Mutation; Neuropsychological Tests; Nystagmus, Congenital; Phenotype; Polymorphism, Single Nucleotide; RNA Splice Sites

Peer Reviewed

1

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