BMPR1B mutation causes Pierre Robin sequence

BACKGROUND: We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY: This study aims to determine the genetic cause of PRS. RESULTS: The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing a...

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Detalles Bibliográficos
Autores principales: Yang, Yongjia, Yuan, Jianying, Yao, Xu, Zhang, Rong, Yang, Hui, Zhao, Rui, Guo, Jihong, Jin, Ke, Mei, Haibo, Luo, Yongqi, Zhao, Liu, Tu, Ming, Zhu, Yimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper: Chromosome
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432222/
https://www.ncbi.nlm.nih.gov/pubmed/28418932
http://dx.doi.org/10.18632/oncotarget.16531

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432222/
https://www.ncbi.nlm.nih.gov/pubmed/28418932
http://dx.doi.org/10.18632/oncotarget.16531

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