Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).
Mariateresa Zanobio,Francesca Nardecchia,Gerarda Cappuccio, Maria Elena Onore, Pasquale Di Letto, Sarah Iffat Rahman,Gaetano Terrone,Lorenzo Ugga, Agnese De Giorgi,Michele Dei Cas,Marco Trinchera,Vincenzo Leuzzi,Giulio Piluso,Vincenzo Nigro,Nicola Brunetti-Pierri, TUDP consortium,Annalaura Torella Human mutation（2025）
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