6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome

Am J Med Genet A. 2013 Apr;161A(4):901-4. doi: 10.1002/ajmg.a.35804. Epub 2013 Mar 12.

Authors

Shannon K LeBlanc¹, Sui Yu, Christopher P Barnett

Affiliation

¹ Pediatric and Reproductive Genetics Unit, SA Pathology/Women's and Children's Hospital, South Australian Clinical Genetics Service, North Adelaide, South Australia, Australia.

PMID: 23495225
DOI: 10.1002/ajmg.a.35804

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Branchio-Oto-Renal Syndrome / diagnosis
Branchio-Oto-Renal Syndrome / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 6*
Comparative Genomic Hybridization
Female
Humans
Infant
Mutation
Phenotype
Transcription Factor AP-2 / genetics*

Substances

TFAP2A protein, human
Transcription Factor AP-2