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Article

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

Neurology - 27 May 2003

Rajab A, Mochida G H, Hill A, Ganesh V, Bodell A, Riaz A, Grant P E, Shugart Y Y, Walsh C A

Abstract excerpt

OBJECTIVE: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. BACKGROUND: PCH is a heterogeneous group of disorders that are characterized by abnormally small cerebellum and brainstem. Autosomal recessive inheritance has been implied in many cases, but no genetic loci have been mapped to date. METHODS: The authors studied a consanguineous family from the Sultanate of Oman with...

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PMID: 12771259
DOI: 10.1212/01.wnl.0000068548.58498.41

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

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