Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Barraza-García, J
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. [electronic resource] - Clinical genetics Jul 2017 - 91-98 p. digital
Publication Type: Journal Article
1399-0004
10.1111/cge.12964 doi
Apoptosis Regulatory Proteins--genetics
Child
Child, Preschool
Dwarfism--diagnostic imaging
Female
Genetic Predisposition to Disease
Homozygote
Humans
Male
Musculoskeletal Abnormalities--diagnostic imaging
Mutation, Missense--genetics
Osteochondrodysplasias--diagnostic imaging
Phenotype
RNA, Long Noncoding--genetics
Ribonucleoproteins--genetics
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. [electronic resource] - Clinical genetics Jul 2017 - 91-98 p. digital
Publication Type: Journal Article
1399-0004
10.1111/cge.12964 doi
Apoptosis Regulatory Proteins--genetics
Child
Child, Preschool
Dwarfism--diagnostic imaging
Female
Genetic Predisposition to Disease
Homozygote
Humans
Male
Musculoskeletal Abnormalities--diagnostic imaging
Mutation, Missense--genetics
Osteochondrodysplasias--diagnostic imaging
Phenotype
RNA, Long Noncoding--genetics
Ribonucleoproteins--genetics