Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

Reference: RES-145-28n.a.003 Abstract: We aimed to improve the understanding of genotypeヨphenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions ヨ separating typicality of presentation, outcome severity and age of onset ヨ and by classifyingᅠMECP2ᅠmutations strictly by predicted functional attributes.ᅠMECP2ᅠmutation screening results were available on 190 patients with a clinical … Read more

Creating conditions : the making and re-making of a genetic syndrome

Reference: RES-145-28-1003 Abstract: Based on original ethnographic research with scientists, clinicians and families, this book examines Rett syndrome to illuminate more general issues concerning the construction and interpretation of diseases and syndromes. It derives from research with a specialist team of clinicians and scientists, and a series of families referred with a potential diagnosis of … Read more

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