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

Authors

P Dunn, George Washington University
G P Prigatano
S Szelinger
J Roth
A L Siniard
A M Claasen
+ several additional authors

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

APA Citation

Dunn, P., Prigatano, G., Szelinger, S., Roth, J., Siniard, A., Claasen, A., & + several additional authors (2017). A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.. American journal of medical genetics. Part A, 173 (3). http://dx.doi.org/10.1002/ajmg.a.38069

Peer Reviewed

1