Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

  • Am J Med Genet A. 2006 Jun 15;140(12):1339-42. doi: 10.1002/ajmg.a.31254.
Carola Cheroki  1 ,  Ana Cristina Krepischi-Santos ,  Carla Rosenberg ,  Fernanda Sarquis Jehee ,  Regina Célia Mingroni-Netto ,  Ivo Pavanello Filho ,  Sebastião Zanforlin Filho ,  Chong Ae Kim ,  Vicente R Bagnoli ,  Berenice B Mendonça ,  Karoly Szuhai ,  Paulo A Otto
Affiliations
  • 1. Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, Brazil.
PMID: 16691591 DOI: 10.1002/ajmg.a.31254