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.