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  5. Mesomelia-synostoses syndrome

Mesomelia-synostoses syndrome

December 31, 2014

Latest Research

  • A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome
  • Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13
  • Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
  • Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene
  • Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course
More Research
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