TY  - GEN
AU  - Salian,Smrithi
AU  - Nampoothiri,Sheela
AU  - Shukla,Anju
AU  - Girisha,Katta M
TI  - Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype
SN  - 1741-4520
PY  - 2019///0904
KW  - Abnormalities, Multiple
KW  - diagnostic imaging
KW  - Carrier Proteins
KW  - genetics
KW  - Child, Preschool
KW  - Craniofacial Abnormalities
KW  - Dysostoses
KW  - Female
KW  - Humans
KW  - Male
KW  - Muscular Atrophy
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/cga.12285
ER  -