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Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.
Human Molecular Genetics|July 21, 2022
Natural history of KBG syndrome in a large European cohortLorenzo Loberti, Lucia Pia Bruno, Stefania Granata, et al.
The New England Journal of Medicine|June 9, 2016
Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
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