Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri et autres
Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype–phenotype correlation has …
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23 citations
Journal of Medical Genetics