Condition: Dwarfism


rs587779349 in BRCA2 gene and Dwarfism PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs104894419 in LIG4 gene and Dwarfism PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

rs587779351 in XRCC4 gene and Dwarfism PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.