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Article

BMPR1B mutation causes Pierre Robin sequence.

Oncotarget - 18 Apr 2017

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

Abstract excerpt

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 and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28418932
DOI: 10.18632/oncotarget.16531
PMCID: PMC5432222

Genes

GRM4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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