Ran Li Bowen Tian Hanting Liang Meiping Chen Hongbo Yang Linjie Wang Hui Pan Huijuan Zhu
10.3389/fendo.2021.604500
Front Endocrinol (Lausanne)
2021 Sep 30;12:604500.
cornelia de lange syndrome smc3 growth disorders heterozygous pathogenic variants short stature
CC BY
https://pubmed.ncbi.nlm.nih.gov/34659104/
Asian People / genetics Cell Cycle Proteins / genetics Chondroitin Sulfate Proteoglycans / genetics Chromosomal Proteins, Non-Histone / genetics De Lange Syndrome / pathology Mutation
Asian People / genetics Cell Cycle Proteins / genetics Chondroitin Sulfate Proteoglycans / genetics Chromosomal Proteins, Non-Histone / genetics De Lange Syndrome / pathology Mutation Case Reports Research Support, Non-U.S. Gov't Review De Lange Syndrome / etiology De Lange Syndrome / metabolism Exome Sequencing Humans Male Phenotype Prognosis Cell Cycle Proteins Chondroitin Sulfate Proteoglycans Chromosomal Proteins, Non-Histone SMC3 protein, human
PMC8515141
34659104
A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review
2021