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Results 1 - 10 of 22 for "Cone-rod" dystrophy 13
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 12 Genetic Testing Registry: Cone-rod dystrophy 13 Genetic Testing Registry: Cone-rod dystrophy 15 Genetic ... ROD DYSTROPHY 3; CORD3 CONE DYSTROPHY 3; COD3 CONE-ROD DYSTROPHY 13; CORD13 CONE-ROD DYSTROPHY 8; CORD8 CONE-ROD ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. PRPH2 gene 
    ... Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:13.0.CO;2-K. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  3. RPGR gene 
    ... RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105-14. doi: 10.1007/978-1-4419-1399-9_13. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  4. TTPA gene 
    ... of heritable vitamin E deficiency. Biochemistry. 2004 Apr 13;43(14):4143-9. doi: 10.1021/bi0363073. Citation on PubMed Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
  5. ABCA4 gene 
    ... been found to cause a vision disorder called cone-rod dystrophy. The problems associated with this condition include a ... for 30 to 60 percent of cases of cone-rod dystrophy that are inherited in an autosomal recessive pattern, ...
    https://medlineplus.gov/genetics/gene/abca4 - Genetics
  6. USH2A gene 
    ... Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8. doi: 10.1073/pnas.0610950104. ... II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499- ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  7. CACNA1F gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Variants in the ... EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  8. CRB1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  9. Nearsightedness 
    ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  10. Bardet-Biedl syndrome 
    ... Bedouin population of Kuwait, affecting about 1 in 13,500 newborns. Bardet-Biedl syndrome can result from ... Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10.1093/ ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
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