Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome

Angelman Syndrome (AS) is a rare genetic disorder caused by lack of maternal UBE3A protein due to a deletion of the chromosome 15q11.2-q13 region, uniparental paternal disomy, imprinting center defect, or pathogenic variant in the UBE3A gene. Characteristics are developmental delay, epilepsy, behavi...

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Detalles Bibliográficos
Autores principales: Bindels-de Heus, Karen G. C. B., Hagenaar, Doesjka A, Dekker, Ilonka, van der Kaay, Danielle C. M., Kerkhof, Gerthe F., Elgersma, Ype, de Wit, Marie-Claire Y., Mous, Sabine E., Moll, Henriette A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10532359/
https://www.ncbi.nlm.nih.gov/pubmed/37762921
http://dx.doi.org/10.3390/jcm12185981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10532359/
https://www.ncbi.nlm.nih.gov/pubmed/37762921
http://dx.doi.org/10.3390/jcm12185981

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