The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

BACKGROUND: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical patterns such as Partington syndrome, the consequence of this mutation ha...

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Detaylı Bibliyografya
Asıl Yazarlar: Curie, Aurore, Nazir, Tatjana, Brun, Amandine, Paulignan, Yves, Reboul, Anne, Delange, Karine, Cheylus, Anne, Bertrand, Sophie, Rochefort, Fanny, Bussy, Gérald, Marignier, Stéphanie, Lacombe, Didier, Chiron, Catherine, Cossée, Mireille, Leheup, Bruno, Philippe, Christophe, Laugel, Vincent, De Saint Martin, Anne, Sacco, Silvia, Poirier, Karine, Bienvenu, Thierry, Souville, Isabelle, Gilbert-Dussardier, Brigitte, Bieth, Eric, Kauffmann, Didier, Briot, Philippe, de Fréminville, Bénédicte, Prieur, Fabienne, Till, Michel, Rooryck-Thambo, Caroline, Mortemousque, Isabelle, Bobillier-Chaumont, Isabelle, Toutain, Annick, Touraine, Renaud, Sanlaville, Damien, Chelly, Jamel, Freeman, Sonya, Kong, Jian, Hadjikhani, Nouchine, Gollub, Randy L, Roy, Alice, des Portes, Vincent
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2014
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4016261/
https://ncbi.nlm.nih.gov/pubmed/24528893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-25
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