Genetic and physical mapping of the McKusick-Kaufman syndrome.

doi:10.1093/hmg/7.3.475

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Article

Genetic and physical mapping of the McKusick-Kaufman syndrome.

Human molecular genetics - 1 Mar 1998

Stone D L, Agarwala R, Schäffer A A, Weber J L, Vaske D, Oda T, Chandrasekharappa S C, Francomano C A, Biesecker L G

Abstract excerpt

McKusick-Kaufman syndrome is a human developmental anomaly syndrome comprising mesoaxial or postaxial polydactyly, congenital heart disease and hydrometrocolpos. This syndrome is diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recessive pattern with re...

Topics

Abnormalities, Multiple
Female
Genetic Linkage
Genotype
Heart Defects, Congenital
Homozygote
Humans
Male
Nuclear Family
Pedigree
Polydactyly
Recombination, Genetic
Syndrome
Uterine Diseases
Vaginal Diseases

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