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Nomenclature and definition in asymmetric regional body overgrowth.

Jennifer M KalishLeslie G BieseckerFrederic BrioudeMatthew A DeardorffAlessandra Di Cesare-MerloneTodd DruleyGiovanni B FerreroPablo LapunzinaLidia LarizzaSaskia MaasMarina MacchiaioloEamonn R MaherSilvia MaitzJulian A MartinezAlessandro MussaPeter RobinsonSilvia RussoAngelo SelicorniRaoul C Hennekam
Published in: American journal of medical genetics. Part A (2017)
We designate a novel term "isolated lateralized overgrowth" (ILO) for the findings previously described as "isolated hemihypertrophy" and "isolated hemihyperplasia." ILO is defined as lateralized overgrowth in the absence of a recognized pattern of malformations, dysplasia, or morphologic variants. ILO is likely genetically heterogeneous. Further study is required to determine more of the underlying genetic etiologies and potential associations with currently unrecognized patterns of malformation.
Keyphrases
  • copy number
  • preterm infants
  • genome wide
  • gene expression
  • gestational age
  • dna methylation
  • human health