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Retinitis Pigmentosa, Dominant/Recessive

MedGen UID:
893443
Concept ID:
CN239431
Disease or Syndrome

Recent clinical studies

Etiology

Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S, Yang L, Fujinami-Yokokawa Y, Arno G, Pontikos N, Sakuramoto H, Kominami T, Terasaki H, Katagiri S, Mizobuchi K, Nakamura N, Yoshitake K, Miyake Y, Li S, Kurihara T, Tsubota K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium
Transl Vis Sci Technol 2020 May;9(6):2. Epub 2020 May 11 doi: 10.1167/tvst.9.6.2. PMID: 32821499Free PMC Article
Farrar GJ, Carrigan M, Dockery A, Millington-Ward S, Palfi A, Chadderton N, Humphries M, Kiang AS, Kenna PF, Humphries P
Hum Mol Genet 2017 Aug 1;26(R1):R2-R11. doi: 10.1093/hmg/ddx185. PMID: 28510639Free PMC Article
Wang Q, Chen Q, Zhao K, Wang L, Wang L, Traboulsi EI
Ophthalmic Genet 2001 Sep;22(3):133-54. doi: 10.1076/opge.22.3.133.2224. PMID: 11559856
Shastry BS
Am J Med Genet 1994 Oct 1;52(4):467-74. doi: 10.1002/ajmg.1320520413. PMID: 7747760
Jordan SA, del Rio T, Soriano N, Garcia-Sandoval B, Kenna P, Ayuso C, Benitez J, Humphries P
Hum Mol Genet 1992 Sep;1(6):411-5. doi: 10.1093/hmg/1.6.411. PMID: 1301915

Prognosis

Nance WE, Sweeney A
Otolaryngol Clin North Am 1975 Feb;8(1):19-48. PMID: 1090886

Clinical prediction guides

Sun W, Gerth C, Maeda A, Lodowski DT, Van Der Kraak L, Saperstein DA, Héon E, Palczewski K
Vision Res 2007 Jul;47(15):2055-66. Epub 2007 May 21 doi: 10.1016/j.visres.2007.04.005. PMID: 17512964Free PMC Article
Shastry BS
Am J Med Genet 1994 Oct 1;52(4):467-74. doi: 10.1002/ajmg.1320520413. PMID: 7747760

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