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A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.

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Bibliographic Details
Title: A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
Authors: Cohen-Barak E; Department of Dermatology, Emek Medical Center, Afula, Israel erancb79@gmail.com.; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel., Danial-Farran N; Genetic Institute, Emek Medical Center, Afula, Israel., Chervinsky E; Genetic Institute, Emek Medical Center, Afula, Israel., Alimi-Kasem O; Genetic Institute, Emek Medical Center, Afula, Israel., Zagairy F; Department of Dermatology, Emek Medical Center, Afula, Israel., Livneh I; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel., Mawassi B; Department of Dermatology, Emek Medical Center, Afula, Israel., Hreish M; Department of Dermatology, Emek Medical Center, Afula, Israel., Khayat M; Genetic Institute, Emek Medical Center, Afula, Israel., Lossos A; Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Meiner V; Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Ehilevitch N; Rambam Health Care Campus, Haifa, Israel., Weiss K; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Rambam Health Care Campus, Haifa, Israel., Shalev S; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Emek Medical Center, Pediatric Department A and Genetic Institute, Afula, Israel.
Source: Journal of medical genetics [J Med Genet] 2023 Mar; Vol. 60 (3), pp. 233-240. Date of Electronic Publication: 2022 Jun 16.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmedgenet-2022-108508