A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus
Year: 2017
Type: article
Study design: Case Report
DOI: 10.1002/ajmg.a.38069
Authors: P. Dunn, G. P. Prigatano, S. Szelinger, J. Roth, A. L. Siniard, A. M. Claasen, R. F. Richholt, M. De Both, J. J. Corneveaux, A. M. Moskowitz, C. Balak, I. S. Piras, M. Russell, A. L. Courtright, N. Belnap, S. Rangasamy, K. Ramsey, J. M. Opitz, D. W. Craig, V. Narayanan, M. J. Huentelman, I. Schrauwen
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2585246459