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Results 1 - 6 of 6 for Retinitis pigmentosa 81
  1. Retinitis pigmentosa 
    ... genetic counseling. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. ... dominant retinitis pigmentosa: a screen of known genes in 200 families. ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  2. RPGR gene 
    ... found to cause the X-linked form of retinitis pigmentosa. This condition primarily affects males, causing night blindness ... 70 percent of all cases of X-linked retinitis pigmentosa.Most of the mutations responsible for X-linked ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  3. Senior-Løken syndrome 
    ... Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  4. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99( ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  5. ALG6-congenital disorder of glycosylation 
    ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
  6. PANK2 gene 
    ... people with a condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration). HARP was historically described as ...
    https://medlineplus.gov/genetics/gene/pank2 - Genetics