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Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.

Andrea Elena DardisAnnalisa PiantaStefania ZampieriIrene ZaninMarta BertoliMonica CazzagonElisa BregantGiuseppe DamanteBruno BembiGiovanni Ciana
Published in: Clinical genetics (2018)
Keyphrases
  • case report
  • poor prognosis
  • copy number
  • genome wide
  • binding protein
  • long non coding rna
  • genome wide identification
  • dna methylation