TY  - GEN
AU  - De Rosa,M Laura Garcia
AU  - Fano,Virginia
AU  - Araoz,H Verónica
AU  - Chertkoff,Lilien
AU  - Obregon,M Gabriela
TI  - Homozygous N540K hypochondroplasia--first report: radiological and clinical features
SN  - 1552-4833
PY  - 2015///0818
KW  - Bone and Bones
KW  - abnormalities
KW  - Brain
KW  - pathology
KW  - Dwarfism
KW  - diagnosis
KW  - Facies
KW  - Genetic Association Studies
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Limb Deformities, Congenital
KW  - Lordosis
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Radiography
KW  - Receptor, Fibroblast Growth Factor, Type 3
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.36504
ER  -