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Article

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.

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

Weiss Karin, Applegate Carolyn, Wang Tao, Batista Denise A S

Abstract excerpt

Haploinsufficiency of TAB2 was recently implicated as a cause for a variety of congenital heart defects. Reported cases have genomic deletions of 2-10 Mbs including TAB2 at 6q24-25 are almost always de novo and show variable cardiac and extra cardiac phenotype. We report on an inherited, 281 kb deletion in a three generation family. This is the smallest reported deletion involving TAB2 that segregates with...

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Source

Identifiers

PMID: 26139517
DOI: 10.1002/ajmg.a.37210

Genes

TAB2

Provenance

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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Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.PMID 26139517Read ↗

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Haploinsufficiency of TAB2 causes congenital heart defects in humans.Semantic proximity Read ↗

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