We describe one of the few familial cases of RTT in which a maternal germline mosaicism is the most likely explanation. The mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males. The mutation was absent in DNA extracted from blood of both [...]
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Researchers report the discovery of the genetic malfunction that causes a form of mental retardation called Noonan Syndrome [...] |
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