article_metadata: Lin Zhou Jing Chen Qian Liu Shuting Yang Wanqin Xie Ying Peng
article_metadata: 10.3389/fendo.2023.1267946
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2023 Nov 23:14:1267946.
article_metadata: case report comp novel missense variants pseudoachondroplasia whole-exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38075060/
article_metadata: Achondroplasia / genetics Cartilage Oligomeric Matrix Protein / genetics Osteochondrodysplasias / genetics
article_metadata: Achondroplasia / genetics Cartilage Oligomeric Matrix Protein / genetics Osteochondrodysplasias / genetics Case Reports Research Support, Non-U.S. Gov't Exome Sequencing Humans Matrilin Proteins / genetics Cartilage Oligomeric Matrix Protein Matrilin Proteins COMP protein, human Pseudoachondroplasia
article_metadata: PMC10702128
article_metadata: 38075060
article_metadata: Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia
article_metadata: 2023