Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.

The authors report the case of a child with horizontal gaze palsy with progressive scoliosis and keratoconus. ROBO3 analysis identified compound heterozygous mutations. Keratoconus surgical approach resulted in visual acuity improvement in both eyes. The previously unreported occurrence of keratocon...

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Detalhes bibliográficos
Autor principal: Pina, S (author)
Outros Autores: Pedrosa, C (author), Feijóo, B (author), Machado, S (author), Prieto, I (author), Costa, C (author), Santos, MJ (author)
Formato: article
Idioma:eng
Publicado em: 2016
Assuntos:
Texto completo:http://hdl.handle.net/10400.10/1760
País:Portugal
Oai:oai:repositorio.hff.min-saude.pt:10400.10/1760