A novel mutation in TRPS1 in a patient with tricho-rhino-phalangeal syndrome type 1, accompanied by vesicoureteral reflux

Eur J Dermatol. 2017 Dec 1;27(6):666-667. doi: 10.1684/ejd.2017.3141.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Codon, Nonsense / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Fingers / abnormalities*
  • Humans
  • Hypotrichosis / genetics*
  • Nose / abnormalities*
  • Repressor Proteins
  • Transcription Factors / genetics*
  • Vesico-Ureteral Reflux / complications*

Substances

  • Codon, Nonsense
  • DNA-Binding Proteins
  • Repressor Proteins
  • TRPS1 protein, human
  • Transcription Factors