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조선욱,박영주 대한갑상선학회 2012 International Journal of Thyroidology Vol.5 No.2
Monogenic disorder is a single gene disorder resulted of a single mutated gene. Monogenic disorder has benefits in early diagnosis and precious prediction of disease course. Furthermore, monogenic disorder could provide an informative knowledge to the understanding of related pathophysiology. Thyroid monogenic disorder could occur in various steps, such as thyroid development, hormonogenesis, TSH-receptor signaling,thyroid hormone transport and end organ response. Here, we reviewed of congenital hypothyroidism,congenital hyperthyroidism and thyroid hormone resistance syndrome.
허돈,한정수 조선대학교 1981 The Medical Journal of Chosun University Vol.6 No.-
This is a report of a rare case of chondrodystrophia calcificans congenita in 2 days old Korean female whose chief complaints were flexion deformity of lower extremities with shortening, cyanosis and mild respiratory distress. Roentgenological bone survey revealed typical multiple discrete punctate calcification in all epiphysis of extremities, spine and pelvis. A review of literature is submitted.