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Article

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.

Journal of neurology - 1 Mar 2009

Durmaz Burak, Wollnik Bernd, Cogulu Ozgur, Li Yun, Tekgul Hasan, Hazan Filiz, Ozkinay Ferda

Abstract excerpt

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem. Recently a rare, novel form of PCH has been reported called cerebellar atrophy with progressive microcephaly (CLAM). Here we report a second family of CLAM with additional phenotypic features and novel molecular findings. Three-year old index patient had severe developmental delay and...

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PMID: 19277761
DOI: 10.1007/s00415-009-0094-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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