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Article

Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.

Pediatric neurology - 1 May 2009

Ruggieri Martino, Roggini Mario, Spalice Alberto, Addis Maria, Iannetti Paola

Abstract excerpt

A 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic...

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Source

Identifiers

PMID: 19380077
DOI: 10.1016/j.pediatrneurol.2008.11.006

Genes

DCX
OCRL

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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