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Article

Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights.

American journal of medical genetics. Part A - 1 Mar 2008

Gomy Israel, Heck Benjamin, Santos Antônio Carlos, Figueiredo Maria Silvia L, Martinelli Carlos E, Nogueira Maria Priscila C, Pina-Neto João M

Abstract excerpt

Gómez-López-Hernández (GLH) syndrome or cerebello-trigeminal dysplasia is a neurocutaneous syndrome whose etiology is unknown at the present time. We report two additional Brazilian patients, including the oldest one known to date (age 29). Here, we review the expanded phenotype in four patients with new clinical, psychiatric, radiological, and molecular investigations. One patient may have hypomania within the...

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Identifiers

PMID: 18247421
DOI: 10.1002/ajmg.a.32173

Genes

ACP2

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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