一个家族中不同同胞关系的部分和完全碘有机化缺陷
Partial and total iodide organification defect in different sibships in a kindred.
作者信息
Perez-Cuvit E, Crigler J F, Stanbury J B
出版信息
Am J Hum Genet. 1977 Mar;29(2):142-8.
Abstract
Identical twins with goiter but without intellectual retardation and with slightly delayed bone age were found to have defective iodide organification as demonstrated by incomplete perchlorate discharge tests. They are grandnieces of a normal member of a sibship which included four children with severe retardation and complete thyroid iodide organification defect. The parents and grandparents are not consanguine. Possible explanations are considered for the problem of why the disorder is manifest completely in one sibship and only partially in the other.
摘要
发现患有甲状腺肿但无智力发育迟缓且骨龄略有延迟的同卵双胞胎存在碘化物有机化缺陷，这通过不完全的过氯酸盐释放试验得以证实。她们是一个同胞关系中一名正常成员的侄孙女，该同胞关系中有四个孩子患有严重智力发育迟缓及完全的甲状腺碘化物有机化缺陷。父母和祖父母并无血缘关系。针对该病症为何在一个同胞关系中完全显现而在另一个中仅部分显现的问题，探讨了可能的解释。
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Cretinism with goiter; a case report.伴有甲状腺肿的呆小症；病例报告
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