Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

doi:10.1016/j.ejmg.2022.104551

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Article

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

European journal of medical genetics - 1 Sept 2022

Stutterd C A, Vanderver A, Lockhart P J, Helman G, Pope K, Uebergang E, Love C, Delatycki M B, Thorburn D, Mackay M T, Peters H, Kornberg A J, Patel C, Rodriguez-Casero V, Waak M, Silberstein J, Sinclair A, Nolan M, Field M, Davis M R, Fahey M, Scheffer I E, Freeman J L, Wolf N I, Taft R J, van der Knaap M S, Simons C, Leventer R J

Abstract excerpt

BACKGROUND: Next generation sequencing studies have revealed an ever-increasing number of causes for genetic disorders of central nervous system white matter. A substantial number of disorders are identifiable from their specific pattern of biochemical and/or imaging findings for which single gene testing may be indicated. Beyond this group, the causes of genetic white matter disorders are unclear and a broader...

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PMID: 35803560
DOI: 10.1016/j.ejmg.2022.104551
PMCID: PMC11479680

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