Genes, Vol. 7, Pages 85: Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

We report only the second case of congenital cataracts and the first of gut dysmotility in a patient with DYNC1H1, thus expanding the spectrum of disease seen in DYNC1H1 dyneinopathies.

Source: Genes - October 13, 2016 Category: Genetics & Stem Cells Authors: Rose Gelineau-Morel Marshall Lukacs K. Weaver Robert Hufnagel Donald Gilbert Rolf Stottmann Tags: Case Report Source Type: research