Identification of novel heterozygous missense variant in the <i>COL11A1</i> causing fetal craniofacial anomalies-Reference-Cited by-同舟云学术

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

Published:2022-02-16 Issue:1 Volume:15 Page:240-246
ISSN:2689-5293
Container-title:All Life
language:en
Short-container-title:All Life

Author:

Dong Zhe¹^ORCID,Ma Qiang¹,Zheng Chunyan²,Huang Yanxia²,Dong Xingyue²,Yang Kai¹,Tan Ya¹,Hu Huaying³⁴,Ren Zhuo¹,Yan Yousheng¹,Zhang Dongliang²,Lin Li¹

Affiliation:

1. Department of Obstetrics and Gynecology, Peking University International Hospital, Beijing, People’s Republic of China

2. Department of Orthodontics, Capital Medical University School of Stomatology, Beijing, People’s Republic of China

3. School of Medicine, Xiamen University, Xiamen, People’s Republic of China

4. Jiaen Genetics Laboratory, Beijing Jiaen Hospital, Beijing, People’s Republic of China

Funder

The National Key Research and Development Program of China

Publisher

Informa UK Limited

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/26895293.2022.2039784

Reference22 articles.

1. Mosaicism in Marshall syndrome

2. Marshall/Stickler syndrome

3. Genetic and orthopedic aspects of collagen disorders

4. Mapping of a human fibrillar collagen gene, pro α1(XI) (COL11A1), to the p21 region of chromosome 1

5. Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea;Annals of Pediatric Endocrinology & Metabolism;2024-04-30

2. Ultrasound imaging based recognition of prenatal anomalies: a systematic clinical engineering review;Progress in Biomedical Engineering;2024-04-01

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