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Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.

Rowena NgH T BjornssonJ A FahrnerJacqueline Harris
Published in: Journal of intellectual disability research : JIDR (2022)
Parent ratings on the CLDQ suggest more difficulties with Math and Spatial skills among those with WSS within group and relative to a community sample. Study results are consistent with recent case reports on the neuropsychological profile associated with WSS and with Kabuki syndrome, which is caused by variants in the related gene KMT2D. Findings lend support for overlapping cognitive patterns across syndromes, implicating potential common disease pathogenesis.
Keyphrases
  • case report
  • copy number
  • healthcare
  • mental health
  • genome wide
  • medical students
  • mild cognitive impairment
  • dna methylation
  • genome wide analysis