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.