Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene-Reference-Cited by-同舟云学术

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene

Published:2015-03 Issue:3 Volume:58 Page:175-179
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Park Hyunwoong,Hong Susie,Cho Sung Im,Cho Tae-Joon,Choi In Ho^ORCID,Jin Dong-Kyu,Sohn Young Bae,Park Sung Won,Cho Hyun-Hae^ORCID,Cheon Jung-Eun^ORCID,Kim So Yeon,Kim Ji Yeon,Park Sung Sup,Seong Moon-Woo

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference19 articles.

1. Identification of four novel COL10A1 missense mutations in Schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly;Bateman;Hum Mutat,2004

2. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia;Bateman;Hum Mutat,2005

3. Detecting polymorphisms and mutations in candidate genes;Collins;Am J Hum Genet,2002

4. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia;Ikegawa;Hum Mutat,1997

5. Isolation of human type X collagen and immunolocalization in fetal human cartilage;Kirsch;Eur J Biochem,1991

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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

2. Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review;Molecular Genetics & Genomic Medicine;2021-03-25

3. A Missense Mutation in COL10A1 Gene in a Pakistani Consanguineous Family with Schmid Type Metaphyseal Chondrodysplasia;Pakistan Journal of Zoology;2021

4. A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage;Bone Reports;2020-06

5. A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency;Cureus;2020-03-23