Avtor/Urednik | Hawlina, Marko; Jarc, Martina; Raič, Petra; Jaki, Polona; Brecelj, Jelka; Peterlin, Borut | |
Naslov | Clinical and genetic heterogeneity in retinitis pigmentosa | |
Tip | članek | |
Vir | Acta Cardiomiol | |
Vol. in št. | Letnik 8 | |
Leto izdaje | 1996 | |
Obseg | str. 119-28 | |
Jezik | eng | |
Abstrakt | Clinical features of retinitis pigmentosa are discussed in relation to different modes of inheritance. Three typical families with autosomal dominant, autosomal recesive and X-linked trait are presented. Detailed history and results of clinical and electrodiagnostic examination are shown and different clinical patterns of the disease depending on the mode of inheritance are compared to each other. | |
Deskriptorji | RETINITIS PIGMENTOSA ELECTRORETINOGRAPHY VARIATION (GENETICS) PEDIGREE |