LHX3
Gene name: LIM homeobox 3OMIM ID: 600577
Chromosome location: 9q34.3
Mutations
| Disease/Phenotype | Pituitary hormone deficiency, combined, 3 |
|---|---|
| Reference transcript | NM_178138.4 |
| DNA Change | c.418G>A |
| A.A. Change | p.Val140Met |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. |