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Results 1 - 3 of 3 for "Cone-rod" dystrophy 14
  1. ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
  2. ... syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes ... Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman ...
  3. ... Some affected individuals have an eye disorder called retinitis pigmentosa that causes vision loss. Females with PMM2-CDG ... cases. J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14. ...