[r14 syndrome without major dysmorphism].
Copyright policy ) M C, de Blois; B, Caille; M O, Rethoré; J L, Dufier; J, Lejeune;
[r14 syndrome without major dysmorphism].
An 8-year-old boy, mentally retarded and epileptic since the age of six months, was found carrier of ring 14 chromosome. A dystrophy of the eye fundi was observed (whitish puncta of the macula); except for the "almond shaped eyes", there was no obvious dismorphism.
Chromosome Aberrations, Chromosomes, Human, Pair 14, Male, Epilepsy, Intellectual Disability, Humans, Abnormalities, Multiple, Chromosome Disorders, Macula Lutea, Ring Chromosomes, Eye Abnormalities, Syndrome, Child
Chromosome Aberrations, Chromosomes, Human, Pair 14, Male, Epilepsy, Intellectual Disability, Humans, Abnormalities, Multiple, Chromosome Disorders, Macula Lutea, Ring Chromosomes, Eye Abnormalities, Syndrome, Child
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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