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Article

A familial 7q36.3 duplication associated with agenesis of the corpus callosum.

American journal of medical genetics. Part A - 1 Sept 2015

Wong Keith, Moldrich Randal, Hunter Matthew, Edwards Matthew, Finlay David, O'Donnell Sheridan, MacDougall Tom, Bain Nicole, Kamien Benjamin

Abstract excerpt

Small chromosomal duplications involving 7q36.3 have rarely been reported. This clinical report describes four individuals from a three-generation family with agenesis of the corpus callosum (ACC) and a 0.73 Mb duplication of 7q36.3 detected by array CGH. The 7q36.3 duplication involves two genes...

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Source

Identifiers

PMID: 25944787
DOI: 10.1002/ajmg.a.37143

Genes

SHH
RBM33

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25944787-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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