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Prevalence (%) of clinical parameters based on data from 7 references describing 310 individuals Add new symptom/sign to this disease
List of symptoms
List of references: Novel mutation in a Japanese family with Branchio-oculo-facial syndrome. Taisuke Sato, Osamu Samura, Noriko Kato, Kosuke Taniguchi, Ken Takahashi, Yuki Ito, Hiroaki Aoki, Masahisa Kobayashi, Ohsuke Migita, Aikou Okamoto, Kenichiro Hata, Human genome variation - 2018 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. C Stoetzel, S Riehm, V Bennouna Greene, V Pelletier, J Vigneron, B Leheup, V Marion, S Hellé, J M Danse, C Thibault, L Moulinier, F Veillon, H Dollfus, American journal of medical genetics. Part A - Oct 2009 - Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? E Richardson, C Davison, A T Moore, Ophthalmic genetics - Jun 1996 A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome. Kevin Lam, Benjamin Cassidy, Rolando Arreola, Hind Al Saif, Kayla King, Natario L Couser, Journal of pediatric ophthalmology and strabismus - 2023 Further delineation of the branchio-oculo-facial syndrome. A E Lin, R J Gorlin, I W Lurie, H G Brunner, I van der Burgt, I V Naumchik, N V Rumyantseva, S Stengel-Rutkowski, K Rosenbaum, P Meinecke, American journal of medical genetics - Mar 1995 Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. Hannah L Titheradge, Chirag Patel, Nicola K Ragge, Clinical dysmorphology - Jan 2015 |