Phenotype and genotype in Nicolaides-Baraitser syndrome.

Sousa, Sérgio B

Phenotype and genotype in Nicolaides-Baraitser syndrome. [electronic resource] - American journal of medical genetics. Part C, Seminars in medical genetics Sep 2014 - 302-14 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

1552-4876

10.1002/ajmg.c.31409 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Child
Child, Preschool
Epilepsy--genetics
Face--abnormalities
Facies
Foot Deformities, Congenital--diagnosis
Genetic Association Studies
Hair--abnormalities
Humans
Hypotrichosis--diagnosis
Intellectual Disability--diagnosis
Mutation
Skin Abnormalities--genetics
Transcription Factors--genetics
Young Adult