PropertyValue
?:definition
  • Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGF1R gene, encoding insulin-like growth factor 1 receptor. This phenotypically variable condition is characterized by clinical features similar to insulin-like growth factor I (IGF-I) deficiency accompanied by increased serum concentrations of IGF-I.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all