Familial isolated growth hormone deficiency.
A family is reported with isolated growth hormone deficiency in two children, their mother and, presumably, also in two maternal uncles and their maternal grandmother. Autosomal dominant inheritance is the best explanation. Isolated growth hormone deficiency is apparently a heterogeneous condition, including autosomal dominant, autosomal recessive as well as non-genetic diseases.
D000328:Adult; D002675:Child, Preschool; D004393:Dwarfism, Pituitary / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D010375:Pedigree
D013006:Growth Hormone