Variant: rs121912642

present in Gene: LHX4 present in Chromosome: 1 Position on Chromosome: 180266393 Alleles of this Variant: C/T

rs121912642 in LHX4 gene and PITUITARY HORMONE DEFICIENCY, COMBINED, 4 PMID 18073311 2008 Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

PMID 17527005 2007 A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.