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中文Thanatophoric Dysplasia, Type Ii (TD2)
Alias:
Td2
Thanatophoric Dysplasia with Straight Femurs and Cloverleaf Skull
Cloverleaf Skull-Micromelic Bone Dysplasia Syndrome
Thanatophoric Dwarfism-Cloverleaf Skull Syndrome
Thanatophoric Dysplasia with Kleeblattschaedel
Cloverleaf Skull with Thanatophoric Dwarfism
Thanatophoric Dysplasia, Type 2
Thanatophoric Dysplasia Type 2
Thanatophoric Dwarfism Type 2
Dysplasia, Thanatophoric, Type Ii
Thanatophoric Dysplasia Type Ii
Thanatophoric Dysplasia 2
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死亡相关性成骨不全，II型，也称为TD2，与死亡相关性成骨不全，I型和Kleeblattschaedel有关。与死亡相关性成骨不全，II型有关的重要基因是FGFR3（成纤维细胞生长因子受体3）。附属组织包括骨和颞叶，相关表型为巨脑和肌张力减退
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MALACARDS
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