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Sorsby syndrome: a report on further generations of the original family.

Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss...

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Autors principals: Thompson, E M, Baraitser, M
Format: Artigo
Idioma:Inglês
Publicat: 1988
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050457/
https://ncbi.nlm.nih.gov/pubmed/3385739
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