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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Detalles Bibliográficos
Autores principales: Malhotra, Hardeep Singh, Juyal, Ratish, Malhotra, Kiran Preet, Shukla, Rakesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108079/
https://www.ncbi.nlm.nih.gov/pubmed/21655206
http://dx.doi.org/10.4103/0972-2327.78051

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108079/
https://www.ncbi.nlm.nih.gov/pubmed/21655206
http://dx.doi.org/10.4103/0972-2327.78051

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