Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency

CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comorbidities, and dysmorphic features. Deletions of the CHAMP1 gene, as part of 13q34 deleti...

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Detalles Bibliográficos
Autores principales: Levy, Tess, Pichardo, Thariana, Silver, Hailey, Lerman, Bonnie, Zweifach, Jessica, Halpern, Danielle, Siper, Paige M., Kolevzon, Alexander, Buxbaum, Joseph D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449971/
https://www.ncbi.nlm.nih.gov/pubmed/37454340
http://dx.doi.org/10.1007/s00439-023-02578-6

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