TY - GEN AU - Arroyo-Carrera, I AU - García-García, MJ AU - Lozano-Rodríguez, JA AU - Polo-Antúnez, A AU - Zunzunegui, JL AU - Álvarez, T AU - Martinez-Fernandez, Maria Luisa AU - Bermejo-Sanchez, Eva PY - 2011 SN - 0210–3893 UR - http://hdl.handle.net/20.500.12105/14087 AB - In 1935, Sorsby [Br J Ophthalmol. 1935; 19:65-90] described a family with several affected individuals presenting with bilateral coloboma of macula, type B brachydactyly affecting hands and feet, and unilateral renal agenesis in one of its members. We... LA - spa PB - Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER) KW - Síndrome de Sorsby KW - Sorsby syndrome TI - Síndrome de Sorsby: descripción de un caso que representa la segunda familia descrita T2 - Sorsby syndrome: Report of a case representing the second reported family TY - research article ER -