与猫叫综合征相关的假性甲状旁腺功能减退症。
Pseudohypoparathyroidism associated with cri du chat syndrome.
作者信息
Kee C W, Lim P, Tan I K
出版信息
Med J Aust. 1976 Aug 28;2(9):344-5. doi: 10.5694/j.1326-5377.1976.tb130225.x.
Abstract
A case is reported in which features of pseudohypoparathyroidism were found in association with the cri du chat syndrome. This association may throw some light on the localization of the chromosomal abberration which underlies pseudohypoparathyroidism, since deletion of the short arm of chromosome 5 has been clearly established in the cri du chat syndrome.
摘要
报告了一例假甲状旁腺功能减退症特征与猫叫综合征相关的病例。这种关联可能有助于阐明假甲状旁腺功能减退症所基于的染色体畸变的定位，因为在猫叫综合征中已明确证实存在5号染色体短臂缺失。
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