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Article

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

American journal of medical genetics. Part A - 1 Aug 2010

Reiber Judith, Sznajer Yves, Posteguillo Elena Guillén, Müller Dietmar, Lyonnet Stanislas, Baumann Clarisse, Just Walter

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 20635357
DOI: 10.1002/ajmg.a.33512

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Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.PMID 20635357Read ↗

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

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

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

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

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

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.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 ↗

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.Semantic proximity Read ↗

Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.Semantic proximity Read ↗

Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.Semantic proximity Read ↗

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