Ontology highlight
ABSTRACT:
SUBMITTER: Slavotinek AM
PROVIDER: S-EPMC4294942 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Slavotinek Anne M AM Baranzini Sergio E SE Schanze Denny D Labelle-Dumais Cassandre C Short Kieran M KM Chao Ryan R Yahyavi Mani M Bijlsma Emilia K EK Chu Catherine C Musone Stacey S Wheatley Ashleigh A Kwok Pui-Yan PY Marles Sandra S Fryns Jean-Pierre JP Maga A Murat AM Hassan Mohamed G MG Gould Douglas B DB Madireddy Lohith L Li Chumei C Cox Timothy C TC Smyth Ian I Chudley Albert E AE Zenker Martin M
Journal of medical genetics 20110420 6
<h4>Background</h4>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 siblings, but no locus or cytogenetic aberration had previously been described.<h4>M ...[more]