Login / Signup

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Zahraa HaidarRamzi TemanniEliane ChoueryPuthen JitheshWei LiuRashid Al-AliEna WangFrancesco M MarincolaNadine JalkhSoha HaddadWassim HaidarLotfi ChouchaneAndré Mégarbané
Published in: BMC genetics (2017)
The main goal of this paper is to add to the knowledge related to the clinical and radiographic aspects of HFS in adulthood and to show the importance of Next-Generation Sequencing (NGS) techniques in resolving such puzzling cases.
Keyphrases
  • healthcare
  • depressive symptoms
  • copy number
  • early life
  • circulating tumor
  • dna methylation