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中文Lenz-Majewski Hyperostotic Dwarfism (LMHD)
Alias:
Lenz-Majewski Syndrome
Lenz Majewski Hyperostotic Dwarfism
Lmhd
Lenz-Majewski Hyperostosis Syndrome
Lms
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Lenz-Majewski Hyperostotic Dwarfism, 也被称为Lenz-Majewski综合症，与Scarf综合症和Limb-mammary综合症有关。与Lenz-Majewski Hyperostotic Dwarfism相关的基因是PTDSS1（磷脂酰丝氨酸合成酶1），其相关通路/超级通路包括代谢和甘油磷脂生物合成。附属组织包括骨和皮肤，相关表型为巨脑和智力障碍
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