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...

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Dades bibliogràfiques
Autors principals: Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3846355/
https://ncbi.nlm.nih.gov/pubmed/24011290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-35
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