Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Brachydactyly type E1 is an autosomal dominant disorder caused by mutations of the HOXD13 gene. Characteristic is a shortage of metacarpals and metatarsals. 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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Oude Luttikhuis ME et al. (1996) Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.
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None (1968) Brachydactyly and pseudo-pseudohypoparathyroidism.
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Gnamey D et al. (1975) [Hereditary type E brachydactylia. Apropos of a familial case].
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Poznanski AK et al. (1977) The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.
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Newcombe DS et al. (1969) Roentgenographic manifestations of hereditary peripheral dysostosis.
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McKusick VA et al. () The clinical behavior of genetic disease: selected aspects.
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Cartwright JD et al. (1980) Brachydactyly type E: A report of a family.
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Wilson LC et al. (1995) Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
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HORTLING H et al. (1960) Short-metacarpal or metatarsal bones: pseudo-pseudohypoparathroidism.
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OMIM.ORG article Omim 113300
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