Condition: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
rs137852684
in
NKX2-5
gene and
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
PMID 16418214
2006 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.