A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, or the congenital absence of uterus and vagina, is the most severe anomaly of the female reproductive tract. It affects 1 in 5,000 females, and is the second most common cause of primary amenorrhea. The etiology remains unknown in most pati...

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Detalles Bibliográficos
Autores principales: Williams, Lacey S., Kim, Hyung-Goo, Kalscheuer, Vera M., Tuck, J. Matthew, Chorich, Lynn P., Sullivan, Megan E., Falkenstrom, Allison, Reindollar, Richard H., Layman, Lawrence C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967518/
https://www.ncbi.nlm.nih.gov/pubmed/27478502
http://dx.doi.org/10.1186/s13039-016-0264-6

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