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