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 ManolakosPublished 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.