Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

BACKGROUND: Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or in...

Descripción completa

Detalles Bibliográficos
Autores principales: Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846355/
https://www.ncbi.nlm.nih.gov/pubmed/24011290
http://dx.doi.org/10.1186/1755-8166-6-35

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846355/
https://www.ncbi.nlm.nih.gov/pubmed/24011290
http://dx.doi.org/10.1186/1755-8166-6-35

Ejemplares similares