Ullah, Asmat

A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. [electronic resource] - European journal of medical genetics Apr 2019 - 278-281 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2018.08.005 doi


Adult
Basic Helix-Loop-Helix Transcription Factors--genetics
Child
Female
Fingers--abnormalities
Frameshift Mutation
Humans
INDEL Mutation
Male
Pedigree
Polydactyly--genetics
Syndactyly--genetics
Toes--abnormalities