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Article

Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Jan 2011

Makeyev Aleksandr V, Bayarsaihan Dashzeveg

Abstract excerpt

OBJECTIVE: The aim of this study is to identify gene targets of TFII-I transcription factors involved in craniofacial development. DESIGN: Recent findings in individuals with Williams-Beuren syndrome who show facial dysmorphism and cognitive defects have pointed to TFII-I genes (GTF2I and GTF2IRD1) as the prime candidates responsible for these clinical features. However, TFII-I proteins are multifunctional...

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PMID: 20500075
DOI: 10.1597/09-093

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.PMID 20500075Read ↗

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Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.Semantic proximity Read ↗

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