[Shprintzen syndrome]

Ryoikibetsu Shokogun Shirizu. 2000:(30 Pt 5):250-1.
[Article in Japanese]
No abstract available

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / physiopathology
  • Adaptor Proteins, Vesicular Transport
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics
  • Craniofacial Abnormalities* / genetics
  • Craniofacial Abnormalities* / physiopathology
  • Diagnosis, Differential
  • Heart Defects, Congenital* / genetics
  • Heart Defects, Congenital* / physiopathology
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Mental Disorders / genetics
  • Mental Disorders / physiopathology
  • Prognosis
  • Proteins / genetics
  • Syndrome

Substances

  • Adaptor Proteins, Vesicular Transport
  • Intracellular Signaling Peptides and Proteins
  • Proteins
  • UFD1 protein, human