Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome

PURPOSE: Manitoba Oculotrichoanal (MOTA) syndrome is an autosomal recessive disorder present in First Nations families that is characterized by ocular (cryptophthalmos), facial, and genital anomalies. At the commencement of this study, its genetic basis was undefined. METHODS: Homozygosity analysis...

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Detalles Bibliográficos
Autores principales: Mateo, Robertino Karlo, Johnson, Royce, Lehmann, Ordan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3369896/
https://www.ncbi.nlm.nih.gov/pubmed/22690109

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