A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

Meshcheryakova, Tatiana I

A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. [electronic resource] - Annals of human genetics Mar 2015 - 148-52 p. digital

Publication Type: Journal Article

1469-1809

10.1111/ahg.12098 doi


Adolescent
Branchio-Oto-Renal Syndrome--genetics
Child
Child, Preschool
DNA Mutational Analysis
Female
Humans
Infant
Infant, Newborn
Male
Mutation, Missense
Russia
Transcription Factor AP-2
Young Adult