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Supplemental Material for: Dual Molecular Diagnosis of CLP1-Related Pontocerebellar Hypoplasia Type 10 and Cystic Fibrosis in a Child: A Case Report

figshare admin karger (2628495) et al.
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Introduction: Pontocerebellar hypoplasia type 10 (PCH10) is an ultra-rare autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants in CLP1, characterized by progressive microcephaly, global developmental delay, and hypotonia. Cystic fibrosis (CF) is an aut
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