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Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene

Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer. We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and specul...

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Auteurs principaux: Malhotra Hardeep, Juyal Ratish, Malhotra Kiran, Shukla Rakesh
Format: Artigo
Langue:Inglês
Publié: Wolters Kluwer Medknow Publications 2011-01-01
Collection:Annals of Indian Academy of Neurology
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Accès en ligne:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2011;volume=14;issue=1;spage=47;epage=49;aulast=Malhotra
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