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• W2158766500 abstract "The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women who usually have normal ovaries and a 46, XX karyotype. MRKH can occur as an isolated form (type I) or in combination with various malformations as a syndromic or a type II MRKH. To date, in most of the cases the underlying etiology remains unclear. Recently, in approximately 6% of MRKH patients, deletions of chromosomal region 17q12 have been identified. The LHX1 gene, which is located in the deletion interval, has been suggested to be a strong candidate, because targeting inactivation of Lhx1 causes a complex phenotype including aplasia of the Müllerian ducts. By sequence analysis of LHX1 in a large cohort of MRKH patients, we detected a heterozygous frame shift mutation resulting in a premature stop codon. Previously, we have reported a heterozygous missense mutation of LHX1 in another MRKH patient. We conclude that heterozygous mutations of LHX1 might be one cause of the MRKH syndrome in a subgroup of patients." @default.
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• W2158766500 date "2012-06-26" @default.
• W2158766500 modified "2023-10-17" @default.
• W2158766500 title "Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome" @default.
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• W2158766500 doi "https://doi.org/10.1093/humrep/des206" @default.
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