HAL (France)
open access
Audiological Phenotyping Evaluation in KBG Syndrome: Description of a Multicenter Review
Objectives Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay. H
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