TY  - GEN
AU  - Barraza-García,J
AU  - Rivera-Pedroza,C I
AU  - Hisado-Oliva,A
AU  - Belinchón-Martínez,A
AU  - Sentchordi-Montané,L
AU  - Duncan,E L
AU  - Clark,G R
AU  - Del Pozo,A
AU  - Ibáñez-Garikano,K
AU  - Offiah,A
AU  - Prieto-Matos,P
AU  - Cormier-Daire,V
AU  - Heath,K E
TI  - Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia
SN  - 1399-0004
PY  - 2018///0316
KW  - Apoptosis Regulatory Proteins
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Dwarfism
KW  - diagnostic imaging
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Musculoskeletal Abnormalities
KW  - Mutation, Missense
KW  - Osteochondrodysplasias
KW  - Phenotype
KW  - RNA, Long Noncoding
KW  - Ribonucleoproteins
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1111/cge.12964
ER  -