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Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

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Title: Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Authors: Kira D; Department of Biochemistry and Molecular Biology, Medical College of Georgia at Augusta University, Augusta, GA, USA.; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Brakta S; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA., Kim HG; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA., Butler J; Department of General Surgery, Morehouse School of Medicine, Atlanta, GA, USA., Chorich LP; 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., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, 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. lalayman@augusta.edu.; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA. lalayman@augusta.edu.; Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, USA. lalayman@augusta.edu.
Source: Human genetics [Hum Genet] 2026 Feb 03; Vol. 145 (1), pp. 18. Date of Electronic Publication: 2026 Feb 03.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Kira+D%22">Kira D</searchLink>; Department of Biochemistry and Molecular Biology, Medical College of Georgia at Augusta University, Augusta, GA, USA.; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Brakta+S%22">Brakta S</searchLink>; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+HG%22">Kim HG</searchLink>; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Butler+J%22">Butler J</searchLink>; Department of General Surgery, Morehouse School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Chorich+LP%22">Chorich LP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Phillips+JA+3rd%22">Phillips JA 3rd</searchLink>; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Layman+LC%22">Layman LC</searchLink>; Section of Reproductive Endocrine, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA. lalayman@augusta.edu.; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA. lalayman@augusta.edu.; Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, USA. lalayman@augusta.edu.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2026 Feb 03; Vol. 145 (1), pp. 18. <i>Date of Electronic Publication: </i>2026 Feb 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s00439-026-02817-6
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              Text: 2026 Feb 03
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