Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

Publisher： John Wiley & Sons Inc

E-ISSN： 1399-0004|93|2|255-265

ISSN： 0009-9163

Source： CLINICAL GENETICS, Vol.93, Iss.2, 2018-02, pp. : 255-265

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