Variant: rs104894117

present in Gene: LHX3 present in Chromosome: 9 Position on Chromosome: 136199800 Alleles of this Variant: T/C

rs104894117 in LHX3 gene and Pituitary Hormone Deficiency, Combined, 3 PMID 10835633 2000 Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

PMID 28302169 2017 Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

PMID 17327381 2007 Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.