LIG4base: LIG4 syndrome

Version 1.1 last updated 16 June, 2011 contains 12 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the LIG4base :

Defects in LIG44 are the cause of LIG44 syndrome. This disease is characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities.

Other resourses:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: LIG4base