In order to understand the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), the research team has to identify molecular bases of this anomaly. Toward this goal, the research team would like to include in the study patients with MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses, especially whole exome sequencing. This study has been set up in order to collect biological samples from patients with MRKH and their relatives.
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
Timeframe: 15 years