A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report

BACKGROUND: Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involving Xp21 genomic location. CASE PRESENTATION: A S...

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Detalles Bibliográficos
Autores principales: Rathnasiri, Asanka, Senarathne, Udara, Arunath, Visvalingam, Hoole, Thabitha, Kumarasiri, Ishara, Muthukumarana, Oshanie, Jasinge, Eresha, Mettananda, Sachith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8543963/
https://www.ncbi.nlm.nih.gov/pubmed/34689766
http://dx.doi.org/10.1186/s12902-021-00876-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8543963/
https://www.ncbi.nlm.nih.gov/pubmed/34689766
http://dx.doi.org/10.1186/s12902-021-00876-6

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