article_metadata: Ran Li Bowen Tian Hanting Liang Meiping Chen Hongbo Yang Linjie Wang Hui Pan Huijuan Zhu
article_metadata: 10.3389/fendo.2021.604500
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2021 Sep 30;12:604500.
article_metadata: cornelia de lange syndrome smc3 growth disorders heterozygous pathogenic variants short stature
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/34659104/
article_metadata: Asian People / genetics Cell Cycle Proteins / genetics Chondroitin Sulfate Proteoglycans / genetics Chromosomal Proteins, Non-Histone / genetics De Lange Syndrome / pathology Mutation
article_metadata: 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
article_metadata: PMC8515141
article_metadata: 34659104
article_metadata: A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review
article_metadata: 2021