A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome-Reference-Cited by-同舟云学术

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome

Published:2016-07-15 Issue:11 Volume:30 Page:1424-1432
ISSN:0950-222X
Container-title:Eye
language:en
Short-container-title:Eye

Author:

Rahimi-Aliabadi S,Daftarian N,Ahmadieh H,Emamalizadeh B,Jamshidi J,Tafakhori A,Ghaedi H,Noroozi R,Taghavi S,Ahmadifard A,Alehabib E,Andarva M,Shokraeian P,Atakhorrami M,Darvish H

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology

Link

http://www.nature.com/articles/eye2016137.pdf

Reference22 articles.

1. Jalili IK, Smith NJ . A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet 1988; 25 (11): 738–740.

2. Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D et al. Molecular genetics of achromatopsia in newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. Ophthalmic Genet 2013; 34 (3): 119–129.

3. Hamel CP . Cone rod dystrophies. Orphanet J Rare Dis 2007; 2: 7.

4. Michaelides M, Bloch-Zupan A, Holder GE, Hunt DM, Moore AT . An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. J Med Genet 2004; 41 (6): 468–473.

5. Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H et al. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 2009; 84 (2): 266–273.

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