Pituitary hormone deficiency, combined, 4
OMIM:262700Mode of inheritance:Autosomal dominant
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | LHX4 |
|---|---|
| Reference transcript | NM_033343.3 |
| DNA Change | c.120G>T |
| A.A. Change | p.Lys40Asn |
| Exon/Intron | exon 2 |
| 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. |