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Article

Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C.

Developmental medicine and child neurology - 1 May 2010

Fong Choong Y I, Mumford Andrew D, Likeman Marcus J, Jardine Philip E

Abstract excerpt

We report two sisters with extensive bilateral periventricular haemorrhagic infarction (PVHI) causing cerebral palsy (CP). The older sister presented at 20 months with cortical visual blindness, spastic diplegia, and purpura fulminans. The younger sister presented aged 3 days old with apnoeas and multifocal seizures. She subsequently had global developmental delay, cortical visual blindness, spastic quadriplegia,...

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Source

Identifiers

PMID: 20187890
DOI: 10.1111/j.1469-8749.2010.03618.x

Genes

PROC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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