A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Viivi Nevanlinna(Tampere University), Anna‐Elina Lehesjoki(University of Helsinki)

European Journal of Medical Genetics

September 16, 2019

10.1016/j.ejmg.2019.103766

Cited by 14

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