Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

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 inheri...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4294942/
https://ncbi.nlm.nih.gov/pubmed/21507892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2011.089631
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