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Article

Atypical findings in three patients with Pai syndrome and literature review.

American journal of medical genetics. Part A - 1 Nov 2012

Lederer Damien, Wilson Brian, Lefesvre Pierre, Poorten Vincent Vander, Kirkham Nigel, Mitra Dipayan, Verellen-Dumoulin Christine, Devriendt Koenraad

Abstract excerpt

Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterio...

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Identifiers

PMID: 22987662
DOI: 10.1002/ajmg.a.35592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22987662-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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