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Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.

Jacobo Limeres PosseCandela SerranoJoaquin Manuel De NovaJavier Silvestre-RangilGuillermo Machuca-PortilloIsabel MauraJose Cruz Ruiz-VillandiegoPedro DizRaquel Blanco-LagoJulián NevadoMarcio Diniz-Freitas
Published in: Journal of clinical medicine (2020)
Certain oral manifestations prevalent in WHS can form part of the syndrome's phenotypic variability. A number of the characteristics of WHS, such as psychomotor delay and epilepsy, are correlated with oral findings such as oligodontia and bruxism. Although most genotype-phenotype correlations are currently unknown, most of them seem to be associated with larger deletions, suggesting that some oral-facial candidate genes might be outside the critical WHS region, indicating that WHS is a contiguous gene syndrome.
Keyphrases
  • case report
  • gene expression
  • copy number
  • transcription factor
  • data analysis