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Article

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

American journal of medical genetics. Part A - 1 Apr 2013

LeBlanc Shannon K, Yu Sui, Barnett Christopher P

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Share to Branchio-Oto-Renal Syndrome
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 6
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Transcription Factor AP-2

Source

Identifiers

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

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Related research

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Research trail→

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6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.PMID 23495225Read ↗

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.Semantic proximity Read ↗

TFAP2A Mutations Result in Branchio-Oculo-Facial SyndromeSemantic proximity Read ↗

TFAP2A mutations result in branchio-oculo-facial syndrome.Semantic proximity Read ↗

Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.Semantic proximity Read ↗

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.Semantic proximity Read ↗

Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.Semantic proximity Read ↗

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.Semantic proximity Read ↗

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.Semantic proximity Read ↗

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.Semantic proximity Read ↗

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review.Semantic proximity Read ↗

Genotype-phenotype analysis of the branchio-oculo-facial syndrome.Semantic proximity Read ↗

Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.Semantic proximity Read ↗

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