Condition: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
rs587779351
in
XRCC4
gene and
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
PMID 25839420
2015 Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
PMID 25728776
2015 Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
PMID 24389050
2014 Genomic analysis of primordial dwarfism reveals novel disease genes.
PMID 26255102
2015 XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.