De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

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Title: De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.
Authors: Stamou M; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA. Electronic address: mstamou@mgh.harvard.edu., Tompkins M; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Bow H; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Kearney J; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Akram M; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Brand H; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA., Zhao X; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA., Zaheri S; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA., Georgopoulos NA; Division of Endocrinology, Department of Medicine, University of Patras Medical School, Patras, Greece., Chorin O; The Danek Gertner Institute of Human Genetics and the Institute of Rare Diseases, The Lily and Edmond Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Khavkin Y; The Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel., Kedar T; Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Lippincott MF; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA., Plummer L; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA., Talkowski M; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA., Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Wu DK; National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD., Balasubramanian R; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA., Wray S; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD., Seminara SB; Reproductive Endocrine Unit, Massachusetts General Hospital and the Center for Reproductive Medicine, Boston, MA.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101623. Date of Electronic Publication: 2025 Oct 24.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1016/j.gim.2025.101623