Maas, Saskia M

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