نتایج جستجو برای: linked mental retardation
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In the past several years, a multitude of genes has been linked to mental retardations in humans, in particular the most commonly occurring X-linked mental retardations. An emerging idea is that structural and functional abnormalities in spines and synapses are a common feature of mental retardations. Consistent with this concept, a number of genes that control synaptic function have been impli...
incontinentia pigmenti (ip) is an x-linked dominant genodermatosis characterized by typical skin lesions along blaschko's lines and associated with ocular, dental, nails, hair, skeletal, central nervous system and cardiovascular anomalies. we report a 5-year-old boy with cutaneous hyperpigmentation along blaschko's lines, atrophic streaks, strabismus and mental retardation. he showed the charac...
In humans, mutations in the gene encoding ATRX, a chromatin remodeling protein of the sucrose-nonfermenting 2 family, cause several mental retardation disorders, including α-thalassemia X-linked mental retardation syndrome. We generated ATRX mutant mice lacking exon 2 (ATRX(ΔE2) mice), a mutation that mimics exon 2 mutations seen in human patients and associated with milder forms of retardation...
This small book is the first of a series of occasional papers which are to be published under the auspices of the Institute for Research into Mental Retardation, and its author is the chairman of the Institute's Research Committee. In the preface, it is said to be aimed at an intelligent lay audience and it is suggested that 'it will be read with interest and profit by workers in the field of m...
To the Editor : OFD1 mutations are responsible for X-linked dominant oral-facial-digital syndrome type I (OFDSI), as well as for four recessive X-linked phenotypes: mental retardation (MR) with macrocephaly, obesity, distal limb abnormalities and ciliary dysfunction [Simpson–Golabi–Behmel syndrome type 2 (SGBS2)], JS (Joubert syndrome) with polydactyly and retinal involvement (JBST10), an uncla...
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