Article

Bone health in children with Angelman Syndrome at the ENCORE Expertise Center

2023-07-18

Abstract excerpt

<h4>Purpose: </h4> 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 reported frequently in clinical practice, there are few studies...

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Literature Corpus work: d9bc57eb-fc18-57db-b050-3aec2c8c1326
DOI: 10.21203/rs.3.rs-3177172/v1

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