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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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Detalhes bibliográficos
Main Authors: Malhotra, Hardeep Singh, Juyal, Ratish, Malhotra, Kiran Preet, Shukla, Rakesh
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3108079/
https://ncbi.nlm.nih.gov/pubmed/21655206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.78051
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