The blood urea nitrogen was elevated to 29 mg. per 100 ml., but thyroid uptake of radioactive iodine, oral glucose tolerance and rectal biopsy were normal and skin tests with histoplasmin ...

The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes ...

Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000–1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region ...