OTX2 Duplication Is Implicated in Hemifacial Microsomia

Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing results indica...

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Detalles Bibliográficos
Autores principales: Zielinski, Dina, Markus, Barak, Sheikh, Mona, Gymrek, Melissa, Chu, Clement, Zaks, Marta, Srinivasan, Balaji, Hoffman, Jodi D., Aizenbud, Dror, Erlich, Yaniv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016008/
https://www.ncbi.nlm.nih.gov/pubmed/24816892
http://dx.doi.org/10.1371/journal.pone.0096788

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016008/
https://www.ncbi.nlm.nih.gov/pubmed/24816892
http://dx.doi.org/10.1371/journal.pone.0096788

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