congenital hypothyroidism, non-goitrous, type 6

An extremely rare disease (OMIM:614450) characterised by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. The condition is remarkable for differential sensitivity to thyroid hormone: responsiveness is retained in the hypothalamic pituitary axis and liver, while skeletal, gastrointestinal and myocardial tissues show resistance to the hormone.
Molecular pathology
Caused by defects of THRA, which encodes high-affinity nuclear hormone receptor for triiodothyronine.

单词	congenital hypothyroidism, non-goitrous, type 6
释义	congenital hypothyroidism, non-goitrous, type 6 congenital hypothyroidism, non-goitrous, type 6 An extremely rare disease (OMIM:614450) characterised by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. The condition is remarkable for differential sensitivity to thyroid hormone: responsiveness is retained in the hypothalamic pituitary axis and liver, while skeletal, gastrointestinal and myocardial tissues show resistance to the hormone. Molecular pathology Caused by defects of THRA, which encodes high-affinity nuclear hormone receptor for triiodothyronine.
随便看	farm-gate sale farm gate type operations farm girl farm hand farmhand farmhands farm horse farmhouse farmhouse (building) farmhouse (fraternity) farmhouse loaf farmhouse rattery farmhouses farm-in farming farming (agriculture) farming and food production protection act farming and rural conservation agency farming area farmingdale baseball league, inc. farmingdale republic airport, new york farming, forestry, animal husbandry, fishery and water conservancy farming in tsetse controlled areas farming language dispersal hypothesis farmingly