Article
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
American journal of medical genetics. Part A - 1 Mar 2013
Nathanson Jared, Swarr Daniel T, Singer Amihood, Liu Mochi, Chinn Amy, Jones Wendy, Hurst Jane, Khalek Nahla, Zackai Elaine, Slavotinek Anne
Abstract excerpt
Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.