Associated Papers
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.
Atique Tacla M et al.
European Journal of Human Genetics : Ejhg, 2024
A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report.
Min J et al.
Frontiers in Pediatrics, 2020
32766183 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
Li H et al.
Human Molecular Genetics, 2013
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Milunsky JM et al.
American Journal of Medical Genetics. Part A, 2011
Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
Reiber J et al.
American Journal of Medical Genetics. Part A, 2010
Select a paper to view details