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Article

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

American journal of human genetics - 1 Oct 2001

Zhao F, Weismann C G, Satoda M, Pierpont M E, Sweeney E, Thompson E M, Gelb B D

Abstract excerpt

To elucidate further the role, in normal development and in disease pathogenesis, of TFAP2B, a transcription factor expressed in neuroectoderm, we studied eight patients with Char syndrome and their families. Four novel mutations were identified, three residing in the basic domain, which is responsible for DNA binding, and a fourth affecting a conserved PY motif in the transactivation domain. Functional analyses...

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Identifiers

PMID: 11505339
DOI: 10.1086/323410
PMCID: PMC1226056

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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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