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

Felbor, U, Suvanto, E A, Forsius, H R, Eriksson, A W and Weber, Bernhard H. F. (1997) Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. The American Journal of Human Genetics 60 (1), pp. 57-62.

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Abstract

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 to whether SFD constitutes more than one nosologic entity. In addition, several reports have proposed ...

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Item type:Article
Date:1997
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
8981947PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35299
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