Expanding the Phenotype and Genotype Spectrum of a Novel Mutation in Hypomyelinating Leukodystrophy-5 With a Review of the Literature on 42 Cases
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Introduction: Hypomyelinating leukodystrophy-5 (HLD-5) is a rare multiple congenital anomaly with intellectual disability caused by an autosomal recessive mutation in the FAM126A gene. It is characterized by bilateral congenital ... ...
