Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature

The contiguous gene deletion syndromes (CGDS) are rare genomic disorders resulting from the deletion of large segments of DNA, manifested as the concurrence of apparently unrelated clinical features. A typical example of CGDS is Xp21 contiguous gene deletion syndrome that involves GK and its neigh-b...

Descripción completa

Detalles Bibliográficos
Autores principales: Pizza, Antonella, Picillo, Esther, Onore, Maria Elena, Scutifero, Marianna, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115399/
https://www.ncbi.nlm.nih.gov/pubmed/37091526
http://dx.doi.org/10.36185/2532-1900-246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115399/
https://www.ncbi.nlm.nih.gov/pubmed/37091526
http://dx.doi.org/10.36185/2532-1900-246

Ejemplares similares