Browsing by keyword "Genetic Heterogeneity"
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A new gene, EVC2, is mutated in Ellis-van Creveld syndromeEllis-van Creveld syndrome (EvC; MIM 225500) is an autosomal recessive chondrodysplastic dwarfism. Thus far, the identified mutations in the EVC gene located on chromosome 4p16 have only accounted for illness in a small proportion of affected individuals. In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC syndrome. Our findings demonstrate for the first time that the heterogeneity observed in this disorder is not solely the result of mutations in a single gene.
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Heterogeneity and hypothesis testing in neuropsychiatric illnessThe confounding effects of heterogeneity in biological psychiatry and psychiatric genetics have been widely discussed in the literature. We suggest an approach in which heterogeneity may be put to use in hypothesis testing, and may find application in evaluation of the Crespi & Badcock (C&B) imprinting hypothesis. Here we consider three potential sources of etiologic subtypes for analysis.