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Article

Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.

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

Páez Marco T, Yamamoto Toshiyuki, Hayashi Ken-ichi, Yasuda Toshiyuki, Harada Naoki, Matsumoto Naomichi, Kurosawa Kenji, Furutani Yoshiyuki, Asakawa Shuichi, Shimizu Nobuyoshi, Matsuoka Rumiko

Abstract excerpt

Chromosomal 8p23 deletion syndrome is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. The responsible gene for the heart defects in this syndrome has been identified as GATA4 on 8p23.1. Two patients with interstitial deletions of 8p23.1 were investigated; one patient showed moderate developmental delay and Ebstein...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18393291
DOI: 10.1002/ajmg.a.32205

Genes

GATA4

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.PMID 18393291Read ↗

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