Article
Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
European journal of pediatrics - 1 Jan 2024
Bindels-de Heus Karen G C B, Hagenaar Doesjka A, Mous Sabine E, Dekker Ilonka, van der Kaay Daniëlle C M, Kerkhof Gerthe F, Elgersma Ype, Moll Henriette A, de Wit Marie-Claire Y
Abstract excerpt
Angelman syndrome (AS) is a rare genetic disorder due to lack of UBE3A function on chromosome 15q11.2q13 caused by a deletion, uniparental paternal disomy (UPD), imprinting center disorder (ICD), or pathological variant of the UBE3A gene. AS is characterized by developmental delay, epilepsy, and lack of speech. Although fractures are observed frequently in our clinical practice, there are few studies on bone...
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