Mayer-Rokitansky-K ünster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism. Further studies will confirm the direct participation of PAX8 in gene target sequencing in a population of MRKH with hypothyroidism.
PMID: 31731040 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - November 11, 2019 Category: Genetics & Stem Cells Authors: Smol T, Ribero-Karrouz W, Edery P, Gorduza DB, Catteau-Jonard S, Manouvrier-Hanu S, Ghoumid J Tags: Eur J Med Genet Source Type: research