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Autor:
Karen G. C. B. Bindels-de Heus, Doesjka A Hagenaar, Ilonka Dekker, Danielle C. M. van der Kaay, Gerthe F. Kerkhof, ENCORE Expertise Center for AS, Ype Elgersma, Marie-Claire Y. de Wit, Sabine E. Mous, Henriette A. Moll
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 18, p 5981 (2023)
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. Charact
Externí odkaz:
https://doaj.org/article/1772f234d10a409d8539e8695823b06e