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

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Title: Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Authors: Brakta S; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA. Electronic address: sbrakta@augusta.edu., Du Q; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA., Chorich LP; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Hawkins ZA; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Sullivan ME; University of Pittsburgh, Pittsburgh, PA, USA., Ko EK; University of Pennsylvania, Philadelphia, PA, USA., Kim HG; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway, NJ, USA., Knight J; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Taylor HS; Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT, USA., Friez M; Greenwood Genetics Center, Greenwood, SC, USA., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA., Layman LC; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA; Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, USA.
Source: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2024 Aug 01; Vol. 589, pp. 112237. Date of Electronic Publication: 2024 Apr 08.
Publication Type: Journal Article
Journal Info: Publisher: North Holland Publishing Country of Publication: Ireland NLM ID: 7500844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8057 (Electronic) Linking ISSN: 03037207 NLM ISO Abbreviation: Mol Cell Endocrinol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1872-8057
DOI:10.1016/j.mce.2024.112237