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.
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Johnson D et al. (2003) Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. |
2. |
Gray E et al. () Inheritance of brachydactyly type D. |
3. |
Robin NH et al. (1999) Clinical and molecular studies of brachydactyly type D. |
4. |
GOODMAN RM et al. (1965) A GENETIC STUDY OF STUB THUMBS AMONG VARIOUS ETHNIC GROUPS IN ISRAEL. |
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OMIM.ORG article Omim 113200 |
6. |
Wikipedia article Wikipedia EN (Brachydactyly_type_D) |