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Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

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Title: Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).
Authors: Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nardecchia F; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cappuccio G; Child Neurology, Department of Translational Medicine, Federico II University, Naples, Italy., Onore ME; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Di Letto P; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Rahman SI; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Terrone G; Child Neurology, Department of Translational Medicine, Federico II University, Naples, Italy., Ugga L; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., De Giorgi A; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cas MD; Department of Health Sciences, University of Milan, Milano, Italy., Trinchera M; Department of Medicine and Surgery (DMC), University of Insubria, Varese, Italy., Leuzzi V; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Piluso G; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
Corporate Authors: TUDP consortium
Source: Human mutation [Hum Mutat] 2025 May 07; Vol. 2025, pp. 3531508. Date of Electronic Publication: 2025 May 07 (Print Publication: 2025).
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2025 May 07; Vol. 2025, pp. 3531508. <i>Date of Electronic Publication: </i>2025 May 07 (<i>Print Publication: </i>2025).
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