Clinical utility gene card for: Alagille Syndrome (ALGS)

Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.140. Epub 2013 Jul 24.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alagille Syndrome / diagnosis*
  • Alagille Syndrome / genetics
  • Calcium-Binding Proteins / genetics*
  • Genetic Testing*
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Membrane Proteins / genetics*
  • Receptor, Notch2 / genetics*
  • Serrate-Jagged Proteins

Substances

  • Calcium-Binding Proteins
  • Intercellular Signaling Peptides and Proteins
  • Membrane Proteins
  • NOTCH2 protein, human
  • Receptor, Notch2
  • Serrate-Jagged Proteins

Associated data

  • OMIM/OMIM118450
  • OMIM/OMIM610205