Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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. 
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Gray E et al. () Inheritance of brachydactyly type D.
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Robin NH et al. (1999) Clinical and molecular studies of brachydactyly type D.
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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
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Wikipedia article Wikipedia EN (Brachydactyly_type_D)
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