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