Article
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Human mutation - 1 Jul 2012
Grillo Elisa, Villard Laurent, Clarke Angus, Ben Zeev Bruria, Pineda Mercedes, Bahi-Buisson Nadia, Hryniewiecka-Jaworska Anna, Bienvenu Thierry, Armstrong Judith, Roche-Martinez Ana, Mari Francesca, Veneselli Edvige, Russo Silvia, Vignoli Aglaia, Pini Giorgio, Djuric Milena, Bisgaard Anne-Marie, Mejaški Bošnjak Vlatka, Polgár Noémi, Cogliati Francesca, Ravn Kirstine, Pintaudi Maria, Melegh Béla, Craiu Dana, Djukic Aleksandra, Renieri Alessandra
Abstract excerpt
Rett syndrome (RTT) is a neurodevelopmental disorder with one principal phenotype and several distinct, atypical variants (Zappella, early seizure onset and congenital variants). Mutations in MECP2 are found in most cases of classic RTT but at least two additional genes, CDKL5 and FOXG1, can underlie some (usually variant) cases. There is only limited correlation between genotype and phenotype. The Rett Networked...
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