Homozygous N540K hypochondroplasia--first report: radiological and clinical features.

De Rosa, M Laura Garcia

Homozygous N540K hypochondroplasia--first report: radiological and clinical features. [electronic resource] - American journal of medical genetics. Part A Jul 2014 - 1784-8 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.36504 doi


Bone and Bones--abnormalities
Brain--pathology
Dwarfism--diagnosis
Facies
Genetic Association Studies
Heterozygote
Homozygote
Humans
Infant
Limb Deformities, Congenital--diagnosis
Lordosis--diagnosis
Magnetic Resonance Imaging
Male
Mutation
Phenotype
Radiography
Receptor, Fibroblast Growth Factor, Type 3--genetics