Associated Papers
A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.
Lee CY et al.
Neuropathology and Applied Neurobiology, 2020
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
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