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.

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity / de Crecchio, G; Simonelli, F; Nunziata, G; Mazzeo, S; Greco, Gm; Rinaldi, E; Ventruto, V; Ciccodicola, A; Miano, Mg; Testa, F; Curci, A; D'Urso, M; Rinaldi, Mm; Cavaliere, Ml; Castelluccio, P; Cennamo, G; Cesarano, I; Vecchio, Ec; Reibaldi, M; DE CRECCHIO, Giuseppe. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - 54:(1998), pp. 315-320. [10.1089/jop.2011.0250]

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

DE CRECCHIO, GIUSEPPE
1998

Abstract

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.
1998
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity / de Crecchio, G; Simonelli, F; Nunziata, G; Mazzeo, S; Greco, Gm; Rinaldi, E; Ventruto, V; Ciccodicola, A; Miano, Mg; Testa, F; Curci, A; D'Urso, M; Rinaldi, Mm; Cavaliere, Ml; Castelluccio, P; Cennamo, G; Cesarano, I; Vecchio, Ec; Reibaldi, M; DE CRECCHIO, Giuseppe. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - 54:(1998), pp. 315-320. [10.1089/jop.2011.0250]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/490632
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