Intra-familial phenotype variability in patients with Jalili syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye2014314.pdf
Reference10 articles.
1. Jalili IK, Smith NJ . A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet 1988; 25: 738–740.
2. 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: 266–273.
3. Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I et al. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet 2009; 84: 259–265.
4. Jalili IK . Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (Lond) 2010; 24: 1659–1668.
5. Luder HU, Gerth-Kahlert C, Ostertag-Benzinger S, Schorderet DF . Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. PLoS One 2013; 8: e78529.
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1. Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome;Molecular Genetics & Genomic Medicine;2022-02-12
2. Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations;Ophthalmic Genetics;2021-12-07
3. Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort;American Journal of Medical Genetics Part A;2020-02-05
4. Features, genetics and their correlation in Jalili syndrome: a systematic review;Journal of Medical Genetics;2019-01-31
5. Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta;American Journal of Ophthalmology;2018-04
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