Identification of novel heterozygous missense variant in the COL11A1 causing fetal craniofacial anomalies

Identification of novel heterozygous missense variant in the COL11A1 causing fetal craniofacial anomalies

Type XI collagen plays a fundamental role in fibrillogenesis, through formation of cartilage collagen fibrils and contributions to the cohesive properties of cartilage. The α-1 chain of type XI collagen is encoded by the COL11A1. Pathogenic variants of COL11A1, have been identified in several geneti...

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Bibliographic Details
Main Authors: Zhe Dong, Qiang Ma, Chunyan Zheng, Yanxia Huang, Xingyue Dong, Kai Yang, Ya Tan, Huaying Hu, Zhuo Ren, Yousheng Yan, Dongliang Zhang, Li Lin
Format: Article
Language:English
Published: Taylor & Francis Group 2022-12-01
Series:All Life
Subjects:
col11a1
marshall syndrome
stickler syndrome type ii
exome sequencing
Online Access:http://dx.doi.org/10.1080/26895293.2022.2039784

Internet

http://dx.doi.org/10.1080/26895293.2022.2039784

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