Avtor/Urednik		Hawlina, M; Jarc, M; Raič, P; Jaki, P; Brecelj, J; Peterlin, B
Naslov		Clinical and genetic heterogeneity in retinitis pigmentosa
Tip		članek
Vir		In: Zidar J, editor. Proceedings of the Symposium on update in neurogenetics with 12th dr. Janez Faganel memorial lecture; 1996 Oct 4-5; Ljubljana. Ljubljana: University institute of clinical neurophysiology,
Leto izdaje		1996
Obseg		str. 90-104
Jezik		eng
Abstrakt		Clinical features of retinitis pigmentosa are discussed in relation to different modes of inheritance. Three typical families with autosomal dominant, autosomal recessive and X-linked trait are presented. Detailaed 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 PEDIGREE CHILD ADOLESCENCE ADULT MIDDLE AGE AGED DNA MUTATIONAL ANALYSIS RETINITIS PIGMENTOSA