Abstract
Jalili syndrome consists of an autosomal recessively inherited progressive cone-rod dystrophy associated with amelogenesis imperfecta. It was first described as such in 1988 in 39 members of a family originating in the Gaza strip. It is associated with mutation in the cyclin M4 gene (CNNM4).
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References
Franceschetti A, Gernet H. Diagnostic ultrasonique d’une microphtalmie sans microcornee, avec macrophakie, haute hypermetropie associee a une degenerescence tapeto-retinienne, une disposition glaucomateuse et des anomalies dentaires (nouveau syndrome familial). Arch Ophtal Rev Gen Ophtal (Paris). 1965;25:105–16.
Jalili IK, Smith NJ. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet. 1988;25:738–40.
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;41:468–73.
Ohdo S, Hirayama K, Tarawaki T. Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: the EEM syndrome. J Med Genet. 1983;20:52–7.
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet. 2009;84:266–73.
Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Megarbane A, Schorderet DF. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet. 2009;84:259–65.
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Puech, B., De Laey, JJ. (2014). Jalili Syndrome. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_27
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DOI: https://doi.org/10.1007/978-3-540-69466-3_27
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