Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

De novo pathogenic variants in CHAMP1 (chromosome alignment maintaining phosphoprotein 1), which encodes kinetochore-microtubule associated protein on 13q34, cause a rare neurodevelopmental disorder. We enrolled 14 individuals with pathogenic variants in CHAMP1 that were documented by exome sequenci...

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Detalles Bibliográficos
Autores principales: Garrity, Madison, Kavus, Haluk, Rojas-Vasquez, Marta, Valenzuela, Irene, Larson, Austin, Reed, Sara, Bellus, Gary, Mignot, Cyril, Munnich, Arnold, Isidor, Bertrand, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Follow-up Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327885/
https://www.ncbi.nlm.nih.gov/pubmed/34021018
http://dx.doi.org/10.1101/mcs.a006092

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