Gordon, Barbara L

Long-term observation of a patient with dominant omodysplasia. [electronic resource] - American journal of medical genetics. Part A May 2014 - 1234-8 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.36408 doi


Abnormalities, Multiple--diagnosis
Bone and Bones--diagnostic imaging
Chromosome Deletion
Chromosomes, Human, X
Comparative Genomic Hybridization
Facies
Female
Humans
Humerus--abnormalities
Metacarpal Bones--abnormalities
Middle Aged
Osteochondrodysplasias--diagnosis
Phenotype
Radiography
T-Box Domain Proteins--genetics