Variant: rs121912641 

    present in Gene: ACBD6;LHX4-AS1;LHX4
    present in Chromosome: 1
    Position on Chromosome: 180271856
    Alleles of this Variant: G/C

rs121912641 in ACBD6;LHX4-AS1;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.