Laron syndrome
OMIM:262500Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | GHR |
|---|---|
| Reference transcript | NM_001242400.2 |
| DNA Change | c.594A>G |
| A.A. Change | p.Glu198= |
| Exon/Intron | intron 6 |
| Mutation Type | substitution |
| Reference | Laron Z.Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003. J Clin Endocrinol Metab. 2004 Mar;89(3):1031-44. |