Article
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Journal of medical genetics - 1 Jun 2011
Slavotinek Anne M, Baranzini Sergio E, Schanze Denny, Labelle-Dumais Cassandre, Short Kieran M, Chao Ryan, Yahyavi Mani, Bijlsma Emilia K, Chu Catherine, Musone Stacey, Wheatley Ashleigh, Kwok Pui-Yan, Marles Sandra, Fryns Jean-Pierre, Maga A Murat, Hassan Mohamed G, Gould Douglas B, Madireddy Lohith, Li Chumei, Cox Timothy C, Smyth Ian, Chudley Albert E, Zenker Martin
Abstract excerpt
BACKGROUND: Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports of affected...
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