Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review

Chun Ho Szeto; Sarina Rubin; Richard Sidlow; Chun Ho Szeto; Sarina B. Rubin; Richard Sidlow

doi:10.7759/cureus.39226

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