Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome

先天性掌趾弯曲-关节挛缩-面部骨骼缺陷综合征(来自翻译大模型)

别称:

Rozin Camptodactyly Syndrome

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome, also known as rozin camptodactyly syndrome, is related to camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye. Affiliated tissues include eye and bone, and related phenotypes are scoliosis and ptosis.

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