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    Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

    Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is charact...

    Lorida Llaci, Keri Ramsey, Newell Belnap, Ana M. Claasen, Chris D. Balak… in Human Genetics (2019)