PhenomeGene — Human Disease Gene Website SeriesEXOSC3

Publications

Mu W, Heller T, & Barañano KW. Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.BMJ Case Reports. 2021;14(1):e236732. PMID: 33462000.