Split-Hand/foot Malformation with Long Bone Deficiency 1 (SHFLD1)

分节手足畸形合并长骨缺损1(来自翻译大模型)

别称:

Split-Hand-Foot Malformation with Long Bone Deficiency 1

Split-Hand/foot Malformation with Long Bone Deficiency

Tibial Aplasia with Split-Hand/split-Foot Deformity

Ectrodactyly with Aplasia of Long Bones

Aplasia of Tibia with Ectrodactyly

Cleft Hand and Absent Tibia

Cleft Hand Absent Tibia

Shfld1

Shfld

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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

Split-Hand/foot Malformation with Long Bone Deficiency 1，也被称为Split-Hand-foot Malformation with Long Bone Deficiency 1，与Split Hand-foot Malformation和染色体17p13.3，telomeric，duplication syndrome有关。与Split-Hand/foot Malformation with Long Bone Deficiency 1有关的重要基因是SHFL1（Split-Hand/Foot Malformation With Long Bone Deficiency 1）。附属组织包括骨和脑，相关表型为分裂手和短大脚趾。

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