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
- 11 May 2006
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 140A (12) , 1339-1342
- https://doi.org/10.1002/ajmg.a.31254
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
- Exclusion of WNT4 as a major gene in Rokitansky‐Küster‐Hauser anomalyAmerican Journal of Medical Genetics Part A, 2005
- AWNT4Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX WomanNew England Journal of Medicine, 2004
- Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplificationNucleic Acids Research, 2002
- A common molecular basis for rearrangement disorders on chromosome 22q11Human Molecular Genetics, 1999
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.Journal of Medical Genetics, 1997
- Chromosome 22q11 deletion presenting as the Potter sequence.Journal of Medical Genetics, 1997
- Genetic evidence that the retinoid signal is transduced by heterodimeric RXR/RAR functional units during mouse developmentDevelopment, 1997
- Function of the retinoic acid receptors (RARs) during development: (II) Multiple abnormalities at various stages of organogenesis in RAR double mutantsDevelopment, 1994