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Article

Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome.

Genomics - 1 Apr 1997

Sirotkin H, O'Donnell H, DasGupta R, Halford S, St Jore B, Puech A, Parimoo S, Morrow B, Skoultchi A, Weissman S M, Scambler P, Kucherlapati R

Abstract excerpt

Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including conotruncal heart defects, cleft palate, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS patients. Both syndromes are thought to be the result of a developmental field defect. Using two independent gene-isolation procedures,...

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Source

Identifiers

PMID: 9126485
DOI: 10.1006/geno.1997.4627

Genes

ARVCF

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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Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome.PMID 9126485Read ↗

Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial SyndromeSemantic proximity Read ↗

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Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.Semantic proximity Read ↗

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Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.Semantic proximity Read ↗

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