Hand involvement in Schmid metaphyseal chondrodysplasia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference6 articles.
1. Japanese type of spondylo-metaphyseal dysplasia
2. Mutation of the Type X Collagen Gene (COL10A1) Causes Spondylometaphyseal Dysplasia
3. Metaphyseal chondrodysplasia, Schmid type Clinical and radiographic deliniation with a review of the literature
4. Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type
5. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
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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. Normal Variants, Congenital, and Acquired Disorders;Forensic Aspects of Paediatric Fractures;2023
3. 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;Molecular Genetics & Genomic Medicine;2021-08-23
4. A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency;Cureus;2020-03-23
5. Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia;BMC Medical Genetics;2019-12
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