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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
Author(s) -
Crecchio Giuseppe,
Simonelli Francesca,
Nunziata Giuseppe,
Mazzeo Salvatore,
Greco Giovanni Maria,
Rinaldi Ernesto,
Ventruto Valerio,
Ciccodicola Alfredo,
Miano Maria Giuseppina,
Testa Francesco,
Curci Anna,
D'Urso Michele,
Rinaldi Maria Michela,
Cavaliere Maria Luigia,
Castelluccio Pia
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1998.5440409.x
Subject(s) - genetic heterogeneity , genetics , biology , medicine , phenotype , gene
Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X‐linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.