Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.158. Epub 2011 Sep 7.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 46, XX Disorders of Sex Development / diagnosis
  • 46, XX Disorders of Sex Development / genetics*
  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Congenital Abnormalities
  • Genetic Testing / methods
  • Hepatocyte Nuclear Factor 1-beta / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • Kidney / abnormalities
  • LIM-Homeodomain Proteins / genetics
  • Mullerian Ducts / abnormalities
  • Mutation
  • Prognosis
  • Proteinase Inhibitory Proteins, Secretory / genetics
  • Sensitivity and Specificity
  • Short Stature Homeobox Protein
  • Somites / abnormalities
  • Spine / abnormalities
  • T-Box Domain Proteins / genetics
  • Transcription Factors / genetics
  • Uterus / abnormalities
  • Vagina / abnormalities

Substances

  • HNF1B protein, human
  • Homeodomain Proteins
  • ITIH5 protein, human
  • LHX1 protein, human
  • LIM-Homeodomain Proteins
  • Proteinase Inhibitory Proteins, Secretory
  • SHOX protein, human
  • Short Stature Homeobox Protein
  • T-Box Domain Proteins
  • TBX6 protein, human
  • Transcription Factors
  • Hepatocyte Nuclear Factor 1-beta

Supplementary concepts

  • Mullerian aplasia