Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Lignende værker

• Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
  af: Khan, Tahir Naeem, et al.
  Udgivet: (2014)
• WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome
  af: Nawaz, Sadia, et al.
  Udgivet: (2009)
• Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
  af: Alaei, Mohammad Reza, et al.
  Udgivet: (2016)
• A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
  af: Tariq, Muhammad, et al.
  Udgivet: (2012)
• Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
  af: Rahman, Obaid Ur, et al.
  Udgivet: (2013)