Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions

Angelman syndrome (AS) and duplication 15q (dup15q) syndrome are rare neurogenetic conditions arising from a common locus on the long arm of chromosome 15. Individuals with both conditions share some clinical features (e.g. intellectual disability, epilepsy) and often require lifelong care. Disease-...

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Principais autores:	Sarah Nelson Potter, Elizabeth Reynolds, Katherine C. Okoniewski, Anne Edwards, Julia Gable, Christine Hill, Vesselina Bakalov, Stephanie Zentz, Carolyne Whiting, Emily Cheves, Katie Garbarini, Elizabeth Jalazo, Carrie Howell, Amanda Moore, Anne Wheeler
Format:	Artigo
Jezik:	Inglês
Izdano:	SAGE Publishing 2024-05-01
Serija:	Therapeutic Advances in Rare Disease
Online dostop:	https://doi.org/10.1177/26330040241254122
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