Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9

Peker et al. (2026) used Genomize-SEQ trio exome analysis to detect a novel intronic AMPD2 variant in a Turkish toddler, enabling a confirmed diagnosis of pontocerebellar hypoplasia type 9 after follow-up functional studies proved the variant disrupts splicing.