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Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

Sorsby fundus dystrophy (SFD) originally was characterized as an autosomal dominant disorder in which patients lose central vision during the 4th or 5th decade of life. Since Sorsby's initial description, interfamilial phenotypic variations have been noted and have given rise to controversy as...

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Détails bibliographiques
Auteurs principaux: Felbor, U, Suvanto, E A, Forsius, H R, Eriksson, A W, Weber, B H
Format: Artigo
Langue:Inglês
Publié: 1997
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712563/
https://ncbi.nlm.nih.gov/pubmed/8981947
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