A de novo splice site mutation inCASKcauses FG syndrome-4 and congenital nystagmus-Reference-Cited by-同舟云学术

A de novo splice site mutation inCASKcauses FG syndrome-4 and congenital nystagmus

Published:2017-01-31 Issue:3 Volume:173 Page:611-617
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dunn P.¹²,Prigatano G. P.³,Szelinger S.¹²,Roth J.¹²,Siniard A. L.¹²,Claasen A. M.¹²,Richholt R. F.¹²,De Both M.¹²,Corneveaux J. J.¹²,Moskowitz A. M.¹²,Balak C.¹²,Piras I. S.¹²,Russell M.¹²,Courtright A. L.¹²,Belnap N.¹²,Rangasamy S.¹²,Ramsey K.¹²,Opitz J. M.⁴,Craig D. W.¹²,Narayanan V.¹²,Huentelman M. J.¹²,Schrauwen I.¹²

Affiliation:

1. Center for Rare Childhood Disorders; Translational Genomics Research Institute; Phoenix Arizona

2. Neurogenomics Division; Translational Genomics Research Institute; Phoenix Arizona

3. Department of Clinical Neuropsychology, Barrow Neurological Institute; Dignity Health St Joseph's Hospital and Medical Center; Phoenix Arizona

4. Department of Pediatrics/Medical Genetics, School of Medicine; University of Utah; Salt Lake City Utah

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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2. Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery;Neural Development;2023-10-07

3. Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein;Genes;2023-08-20

4. Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH;Frontiers in Genetics;2022-08-25

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