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Article

Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.

American journal of medical genetics. Part A - 15 Mar 2007

Quintero-Rivera Fabiola, Chan Alicia, Donovan Diana J, Gusella James F, Ligon Azra H

Abstract excerpt

We report cytogenetic and molecular studies of a de novo, apparently balanced t(1;3)(q32.1;q25.1) identified in a 12-year-old female (designated DGAP128) with cerebral atrophy, macrocephaly seizures, and developmental delay. A combination of fluorescence in situ hybridization (FISH) and Southern...

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Source

Identifiers

PMID: 17304550
DOI: 10.1002/ajmg.a.31618

Genes

SYT14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17304550-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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