The manifestations of branchio-oto-renal syndrome (BOR), Treacher Collins syndrome, tricho-rhino-phalangeal syndrome, van der Woude syndrome, and Langer-Giedion syndrome are well-defined; these conditions represent clinically and genetically separate syndromes. Autosomaldominant branchio-oto-renal s
Branchio-otic syndromes imbroglio
β Scribed by Kalatzis, Vasiliki; Petit, Christine
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 4 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990219)82:5<440::aid-ajmg15>3.0.co;2-a
No coin nor oath required. For personal study only.
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In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the di
Isidro Mezquita, un escritor sesentΓ³n cansado de su vida aburrida y falto de ideas para escribir su nuevo libro, decide refugiarse en OtΓn, una poblaciΓ³n abandonada de la provincia de Huesca. AllΓ alquila una destartalada casa a un vecino de Rodellar, una villa cercana. El arrendatario le ofrece los