Identification of a novel COL10A1 : c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method-Reference-Cited by-同舟云学术

Identification of a novel COL10A1 : c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method

Published:2021-08-23 Issue:10 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ye Yanchou¹^ORCID,Li Weihao²,Wang Guan³,Zhan Longsheng³,Lin Junwei³,Li Tian¹,Zhang Jun³

Affiliation:

1. Department of Obstetrics and Gynecology The Seventh Affiliated Hospital Sun Yat‐sen University Shenzhen China

2. Reproductive Medicine Center The Seventh Affiliated Hospital Sun Yat‐sen University Shenzhen China

3. Department of Obstetrics and Gynecology The Third Affiliated Hospital of Sun Yat‐sen University Guangzhou China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1758

Reference32 articles.

1. Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant

2. Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management

3. Nosology and classification of genetic skeletal disorders: 2015 revision

4. A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.

5. Noninvasive prenatal diagnosis

Cited by 1 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. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants;Bone;2023-02