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Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. Nectoux J, et al. Clin Genet. 2006 Jul;70(1):29-33. doi: 10.1111/j.1399-0004.2006.00629.x. Clin Genet. 2006. PMID: 16813600
The CDKL5 gene has been implicated in infantile spasms and more recently in a Rett syndrome-like phenotype. We report a case of a young girl presenting generalized convulsions at 10 days of life. ...Moreover, this report reinforces the observation that the CDKL5 phenotype …
The CDKL5 gene has been implicated in infantile spasms and more recently in a Rett syndrome-like phenotype. We report a case of a you …
InterRett, a model for international data collection in a rare genetic disorder.
Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Ben Zeev B, Wu XR, Bao X, Mac Leod P, Armstrong J, Leonard H. Louise S, et al. Res Autism Spectr Disord. 2009 Jul;3(3):10.1016/j.rasd.2008.12.004. doi: 10.1016/j.rasd.2008.12.004. Res Autism Spectr Disord. 2009. PMID: 24348750 Free PMC article.
Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. ...Of one thousand one hundred and fourteen InterRett subjects, nine hundred and thirty five born after 1976 could be verified as Rett cases and compared with the two hundred and ninety fiv …
Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. ...Of one thousand one hundred and fourteen InterRett su …