Mirhosseini–Holmes–Walton syndrome
| Mirhosseini–Holmes–Walton syndrome | |
|---|---|
| Other names | Pigmentary retinopathy-intellectual disability syndrome |
| Specialty | Ophthalmology, Neurology |
Mirhosseini–Holmes–Walton syndrome is a syndrome which involves retinal degeneration, cataract, microcephaly, and mental retardation. It was first characterized in 1972.[1][2] There is evidence that this syndrome has a different mutation in the same gene as Cohen syndrome.[3][4]
References[]
- ^ Mirhosseini, SA; Holmes, LB; Walton, DS (1972). "Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation". J. Med. Genet. 9 (2): 193–6. doi:10.1136/jmg.9.2.193. PMC 1469024. PMID 5046629.
- ^ Steinlein, O; Tariverdian, G; Boll, H. U.; Vogel, F. (1991). "Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini-Holmes-Walton syndrome". American Journal of Medical Genetics. 41 (2): 196–200. doi:10.1002/ajmg.1320410213. PMID 1785634.
- ^ Norio, R; Raitta, C (1986). "Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?". Am. J. Med. Genet. 25 (2): 397–8. doi:10.1002/ajmg.1320250227. PMID 3096139.
- ^ Horn D, Krebsová A, Kunze J, Reis A (2000). "Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity". American Journal of Medical Genetics. 92 (4): 285–92. doi:10.1002/(SICI)1096-8628(20000605)92:4<285::AID-AJMG13>3.0.CO;2-D. PMID 10842298.
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Categories:
- Diseases of the eye and adnexa
- Intellectual disability
- Syndromes
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