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2. Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form. Mu W; Heller T; Barañano KW BMJ Case Rep; 2021 Jan; 14(1):. PubMed ID: 33462000 [TBL] [Abstract][Full Text] [Related]
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