Analysis of the Phenotypes in the Rett Networked Database
Analysis of the Phenotypes in the Rett Networked Database
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Author / Creator
Frullanti, Elisa , Papa, Filomena T. , Grillo, Elisa , Clarke, Angus , Ben-Zeev, Bruria , Pineda, Mercedes , Bahi-Buisson, Nadia , Bienvenu, Thierry , Armstrong, Judith , Roche Martinez, Ana , Mari, Francesca , Nissenkorn, Andreea , Lo Rizzo, Caterina , Veneselli, Edvige , Russo, Silvia , Vignoli, Aglaia , Pini, Giorgio , Djuric, Milena , Bisgaard, Anne-Marie , Ravn, Kirstine , Bosnjak, Vlatka Mejaski , Hayek, Joussef , Khajuria, Rajni , Montomoli, Barbara , Cogliati, Francesca , Pintaudi, Maria , Hadzsiev, Kinga , Craiu, Dana , Voinova, Victoria , Djukic, Aleksandra , Villard, Laurent and Renieri, Alessandra
Publisher
New York: Hindawi
Journal title
Language
English
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Publication information
Publisher
New York: Hindawi
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Scope and Contents
Contents
Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1 mutations have been reported in Rett patients, especially with the atypical presentation. Each gene and different mutations within each gene contribute...
Alternative Titles
Full title
Analysis of the Phenotypes in the Rett Networked Database
Authors, Artists and Contributors
Author / Creator
Papa, Filomena T.
Grillo, Elisa
Clarke, Angus
Ben-Zeev, Bruria
Pineda, Mercedes
Bahi-Buisson, Nadia
Bienvenu, Thierry
Armstrong, Judith
Roche Martinez, Ana
Mari, Francesca
Nissenkorn, Andreea
Lo Rizzo, Caterina
Veneselli, Edvige
Russo, Silvia
Vignoli, Aglaia
Pini, Giorgio
Djuric, Milena
Bisgaard, Anne-Marie
Ravn, Kirstine
Bosnjak, Vlatka Mejaski
Hayek, Joussef
Khajuria, Rajni
Montomoli, Barbara
Cogliati, Francesca
Pintaudi, Maria
Hadzsiev, Kinga
Craiu, Dana
Voinova, Victoria
Djukic, Aleksandra
Villard, Laurent
Renieri, Alessandra
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_5503a980b8c64cb1aa57eb1f3caf31c0
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5503a980b8c64cb1aa57eb1f3caf31c0
Other Identifiers
ISSN
2314-436X,2314-4378
E-ISSN
2314-4378
DOI
10.1155/2019/6956934
