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, G.m., Rinaldi, E., Ventruto, V., Ciccodicola, A., Miano, M.g., Testa, F., Curci, A., D'Urso, M., Rinaldi, M.m., Cavaliere, M.l., Castelluccio, P., Cennamo, G., Cesarano, I., Vecchio, E.c., Reibaldi, M., DE CRECCHIO, G.. - 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, G.m., Rinaldi, E., Ventruto, V., Ciccodicola, A., Miano, M.g., Testa, F., Curci, A., D'Urso, M., Rinaldi, M.m., Cavaliere, M.l., Castelluccio, P., Cennamo, G., Cesarano, I., Vecchio, E.c., Reibaldi, M., DE CRECCHIO, G.. - 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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