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.