Metaphyseal Chondrodysplasia Schmid Type Latest Advances
Find the Latest Research About Metaphyseal Chondrodysplasia Schmid Type
Last Updated: 02/24/2026
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Found 33 publications
Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.
Journal: Calcified tissue international
Published: October 06, 2025
The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.
Journal: Human molecular genetics
Published: March 22, 2025
COL10A1-related metaphyseal dysplasia Schmid caused by the p.L644F variant in the COL10A1 gene.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: March 20, 2025
CT Scan Data Analysis in Malformations of Cortical Development.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: April 17, 2024
Carbon Dots as Potential Therapeutic Agents for Treating Non-Alcoholic Fatty Liver Disease and Associated Inflammatory Bone Loss.
Journal: Bioconjugate chemistry
Published: August 28, 2023
Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 27, 2023
Metaphyseal Chondrodysplasia Type Schmid: Case Report
Journal: Revista medica de Chile
Published: May 05, 2023
Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
Journal: Molecular genetics & genomic medicine
Published: May 30, 2020
A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.
Journal: Cureus
Published: April 25, 2020
Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.
Journal: BMC medical genetics
Published: June 11, 2019
The evolving therapeutic landscape of genetic skeletal disorders.
Journal: Orphanet journal of rare diseases
Published: May 28, 2019
Gene cloning to clinical trials-the trials and tribulations of a life with collagen.
Journal: International journal of experimental pathology
Published: December 21, 2018
Last Updated: 02/24/2026