855 COHEN SYNDROME IN ISRAEL: GENETIC AND ETHNIC BACKGROUND
نویسندگان
چکیده
منابع مشابه
Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans.
CYP2D6 differences have already been demonstrated within Latin American populations by the CEIBA.FP Consortium of the Ibero-American Network of Pharmacogenetics (RIBEF, as per the acronym in Spanish). However, within the population of Costa Rica, no research has been conducted until now, even though this population has a trihybrid component ancestry that represents an interesting condition. Thu...
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Cohen syndrome is a rare, genetic condition, recessively inherited, associated with specific facial dysmorphism, global developmental delay, hypotonia and ophthalmic abnormalities. A delay in making the diagnosis commonly occurs, because of the lack of a definitive molecular test and also because of the clinical variability of the syndrome. In this paper we describe four cases of Cohen syndrome...
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BACKGROUND Age-related macular degeneration is the most common cause of legal blindness in the developed world including Israel. Ethnic background is a risk factor for advanced AMD in several populations, however the relative prevalence of this disease in different ethnic groups in the Middle East is unknown. OBJECTIVES To compare the prevalence of advanced AMD in Arabs and Jews in Israel. ...
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Three sibs with Cohen syndrome are presented. Abnormalities present in all three children include mental retardation, hypotonia, and short philtrum with open mouth and prominent lips. The older two sibs have a similar facies and an engaging personality. The youngest child shows a different facial appearance and marked behavioural problems, thereby illustrating the intrafamilial variability whic...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198504000-00885