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....

Descripción completa

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

Internet

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

Ejemplares similares