Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess

Gelijkaardige items

• Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.
  door: Gupta, Aayush, et al.
  Gepubliceerd in: (2015)
• Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
  door: Karuthedath Vellarikkal, Shamsudheen, et al.
  Gepubliceerd in: (2016)
• Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2; referees: 2 approved, 1 approved with reservations]
  door: Shamsudheen Karuthedath Vellarikkal, et al.
  Gepubliceerd in: (2016-07-01)
• Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
  door: Rawat, Amit, et al.
  Gepubliceerd in: (2017)
• Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia [version 2; referees: 2 approved]
  door: Amit Rawat, et al.
  Gepubliceerd in: (2017-08-01)