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Article

Periventricular nodular heterotopia and Williams syndrome.

American journal of medical genetics. Part A - 15 Jun 2006

Ferland Russell J, Gaitanis John N, Apse Kira, Tantravahi Umadevi, Walsh Christopher A, Sheen Volney L

Abstract excerpt

We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the...

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Identifiers

PMID: 16691586
DOI: 10.1002/ajmg.a.31259

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

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