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Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome
Author(s) -
van AmenHellebrekers Claudia J. M.,
Jansen Sandra,
Stegmann Alexander P. A.,
Stevens Servi J. C.,
Pfundt Rolph,
de Vries Bert B. A.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38396
Subject(s) - intellectual disability , mutation , medicine , genetics , pediatrics , biology , gene