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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ISSN:1432-1203
DOI:10.1007/s00439-026-02817-6