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Genetics of the female reproductive ducts

Genetics of the female reproductive ducts Familial aggregates of the most common disorders of müllerian differentiation in females—Müllerian aplasia, incomplete Müllerian fusion—are best explained on the basis of polygenic/multifactorial inheritance. No information exists on the number and chromosomal location of responsible genes. Single mutant genes (Mendelian) are responsible for the McKusick‐Kaufman syndrome (MKS) and the hand‐foot‐genital syndrome. The molecular basis for the latter condition involves HOXA13, but the molecular basis of MKS and other disorders of the female reproductive ducts is unknown. Vaginal atresia, Müllerian aplasia, and incomplete Müllerian fusion are not infrequently observed in malformation syndromes. Am. J. Med. Genet. (Semin. Med. Genet.) 89:224–239, 1999. © 2000 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Genetics of the female reproductive ducts

Simpson, Joe Leigh
American Journal of Medical Genetics , Volume 89 (4) – Dec 29, 1999
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Publisher
Wiley
Copyright
Copyright © 2000 Wiley‐Liss, Inc.
ISSN
1552-4868
eISSN
1552-4833
DOI
10.1002/(SICI)1096-8628(19991229)89:4<224::AID-AJMG7>3.3.CO;2-3
Publisher site
See Article on Publisher Site

Abstract

Familial aggregates of the most common disorders of müllerian differentiation in females—Müllerian aplasia, incomplete Müllerian fusion—are best explained on the basis of polygenic/multifactorial inheritance. No information exists on the number and chromosomal location of responsible genes. Single mutant genes (Mendelian) are responsible for the McKusick‐Kaufman syndrome (MKS) and the hand‐foot‐genital syndrome. The molecular basis for the latter condition involves HOXA13, but the molecular basis of MKS and other disorders of the female reproductive ducts is unknown. Vaginal atresia, Müllerian aplasia, and incomplete Müllerian fusion are not infrequently observed in malformation syndromes. Am. J. Med. Genet. (Semin. Med. Genet.) 89:224–239, 1999. © 2000 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics – Wiley

Published: Dec 29, 1999

Keywords: genetics; female reproductive tract; Müllerian aplasia; incomplete Müllerian fusion; syndromes

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