[Johanson-Blizzard syndrome]

Nihon Rinsho. 2006 May 28:Suppl 1:395-8.
[Article in Japanese]
No abstract available

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / physiopathology
  • Abnormalities, Multiple* / therapy
  • Child
  • Developmental Disabilities* / diagnosis
  • Developmental Disabilities* / genetics
  • Developmental Disabilities* / physiopathology
  • Developmental Disabilities* / therapy
  • Diagnosis, Differential
  • Female
  • Genetic Diseases, X-Linked
  • Humans
  • Hypothyroidism* / diagnosis
  • Hypothyroidism* / genetics
  • Hypothyroidism* / physiopathology
  • Hypothyroidism* / therapy
  • Mutation
  • Nose / abnormalities*
  • Prognosis
  • Scalp / abnormalities*
  • Syndrome
  • Tooth Loss* / diagnosis
  • Tooth Loss* / genetics
  • Tooth Loss* / physiopathology
  • Tooth Loss* / therapy
  • Ubiquitin-Protein Ligases / genetics

Substances

  • UBR1 protein, human
  • Ubiquitin-Protein Ligases