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首页> 外文期刊>The journal of clinical endocrinology and metabolism >Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
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Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome

机译:Hajdu-Cheney综合征患儿的骨结构特征和对双膦酸盐治疗的反应

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AbstractContextHajdu-Cheney syndrome (HJCYS) is a rare, multisystem bone disease caused by heterozygous mutations in the NOTCH2 gene. Histomorphometric and bone ultrastructural analyses in children have not been reported and sparse evidence exists on response to bisphosphonate (BP) therapy.
机译:摘要背景哈吉杜切尼综合征(HJCYS)是一种由NOTCH2基因杂合突变引起的罕见的多系统骨疾病。儿童的组织形态计量学和骨超微结构分析尚未见报道,对双膦酸盐(BP)治疗反应的证据稀少。

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