Condition: PITUITARY DWARFISM I
rs587779349
in
BRCA2
gene and
PITUITARY DWARFISM I
PMID 24389050
2014 Genomic analysis of primordial dwarfism reveals novel disease genes.
rs104894419
in
LIG4
gene and
PITUITARY DWARFISM I
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
PITUITARY DWARFISM I
PMID 24389050
2014 Genomic analysis of primordial dwarfism reveals novel disease genes.