Article
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Cold Spring Harbor molecular case studies - 1 Aug 2021
Garrity Madison, Kavus Haluk, Rojas-Vasquez Marta, Valenzuela Irene, Larson Austin, Reed Sara, Bellus Gary, Mignot Cyril, Munnich Arnold, Isidor Bertrand, Chung Wendy K
Abstract excerpt
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 sequencing or gene panel sequencing. Medical history interviews, seizure surveys, Vineland Adapted Behavior Scales Second...
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