article_metadata: Jie-Yuan Jin Dan-Yu Liu Zi-Jun Jiao Yi Dong Jie Li Rong Xiang
article_metadata: 10.1155/2020/2149342
article_metadata: Biomed Res Int
article_metadata: 2020 May 23;2020:2149342.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/32566668/
article_metadata: Arthrogryposis / genetics Arthrogryposis / pathology Arthrogryposis / physiopathology Metalloendopeptidases / genetics Mutation / genetics Ophthalmoplegia / genetics Ophthalmoplegia / pathology Ophthalmoplegia / physiopathology Retinal Diseases / genetics Retinal Diseases / pathology Retinal Diseases / physiopathology
article_metadata: Arthrogryposis / genetics Arthrogryposis / pathology Arthrogryposis / physiopathology Metalloendopeptidases / genetics Mutation / genetics Ophthalmoplegia / genetics Ophthalmoplegia / pathology Ophthalmoplegia / physiopathology Retinal Diseases / genetics Retinal Diseases / pathology Retinal Diseases / physiopathology Case Reports Child DNA Mutational Analysis Humans Male Pedigree Polymorphism, Single Nucleotide / genetics ECEL1 protein, human Metalloendopeptidases Oculomelic amyoplasia
article_metadata: PMC7273484
article_metadata: 32566668
article_metadata: The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D
article_metadata: 2020