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Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome

8 Apr 2024

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PMID: 38599276
DOI: 10.1016/j.mce.2024.112237

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Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndromePMID 38599276Read ↗

Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the LiteratureSemantic proximity Read ↗

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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsSemantic proximity Read ↗

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Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic ApproachesSemantic proximity Read ↗

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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.Semantic proximity Read ↗

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