Results 1 -
3
of
3
for
"Cone-rod" dystrophy 14
- ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
- ... 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 ...
- ... 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. ...