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16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance

BACKGROUND: Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS....

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Detalles Bibliográficos
Autores principales:	Sun, Mingran, Zhang, Han, Li, Guiying, Wang, Xianfu, Lu, Xianglan, Sternenberger, Andrea, Guy, Carrie, Li, Wenfu, Lee, Jiyun, Zheng, Lei, Li, Shibo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4260201/ https://www.ncbi.nlm.nih.gov/pubmed/25493098 http://dx.doi.org/10.1186/s13039-014-0076-5

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