Jie-Yuan Jin Dan-Yu Liu Zi-Jun Jiao Yi Dong Jie Li Rong Xiang
10.1155/2020/2149342
Biomed Res Int
2020 May 23;2020:2149342.
CC BY
https://pubmed.ncbi.nlm.nih.gov/32566668/
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
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
PMC7273484
32566668
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D
2020