Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. [electronic resource]
- European journal of medical genetics May 2015
- 279-92 p. digital
Publication Type: Journal Article
1878-0849
10.1016/j.ejmg.2015.03.002 doi
Abnormalities, Multiple--genetics Adolescent Adult Aged Child Child, Preschool DNA-Binding Proteins--genetics Female Genetic Association Studies Humans Infant Langer-Giedion Syndrome--genetics Male Middle Aged Mutation, Missense Repressor Proteins Transcription Factors--genetics Young Adult