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Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.

Nikolaos DrakoulisIoannis PapoulidisDionysios VrachnisElisavet SiomouNikolaos AntonakopoulosStavroula OikonomouDimitrios ZygourisNikolaos LoukasZoi IliodromitiEfterpi PavlidouLoretta ThomaidisEmmanouil Manolakos
Published in: Molecular cytogenetics (2021)
Identification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion.
Keyphrases
  • case report
  • copy number
  • systematic review
  • mental health
  • genome wide
  • optical coherence tomography
  • dna methylation