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

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Bibliographic Details
Title: A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Authors: Dunn, P.1,2, Prigatano, G. P.3, Szelinger, S.1,2, Roth, J.1,2, Siniard, A. L.1,2, Claasen, A. M.1,2, Richholt, R. F.1,2, De Both, M.1,2, Corneveaux, J. J.1,2, Moskowitz, A. M.1,2, Balak, C.1,2, Piras, I. S.1,2, Russell, M.1,2, Courtright, A. L.1,2, Belnap, N.1,2, Rangasamy, S.1,2, Ramsey, K.1,2, Opitz, J. M.4, Craig, D. W.1,2, Narayanan, V.1,2
Source: American Journal of Medical Genetics. Part A; Mar2017, Vol. 173 Issue 3, p611-617, 7p
Database: Applied Science & Technology Source
Description
ISSN:15524825
DOI:10.1002/ajmg.a.38069