Brachydactyly type D
Brachydactyly type D is an autosomal dominant disorder caused by mutations of the HOXD13 gene. Characteristic is a shortage of the thumb. Short stature and other skeletal abnormalities are not typical.
Johnson D et. al. (2003) Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.[^]
Gray E et. al. () Inheritance of brachydactyly type D.[^]
Robin NH et. al. (1999) Clinical and molecular studies of brachydactyly type D.[^]
GOODMAN RM et. al. (1965) A GENETIC STUDY OF STUB THUMBS AMONG VARIOUS ETHNIC GROUPS IN ISRAEL.[^]