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中文Parietal Foramina with Cleidocranial Dysplasia (PFMCCD)
Alias:
Cleidocranial Dysplasia with Parietal Foramina
Pfmccd
Foramina, Parietal, with Cleidocranial Dysplasia
Parietal Foramina with Clavicular Hypoplasia
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额骨孔伴颅锁骨发育不全，又称额骨孔伴颅锁骨发育不全，与额骨孔和颅锁骨发育不全有关 1。额骨孔伴颅锁骨发育不全的一个重要基因是MSX2（Msh Homeobox 2），其相关通路/超通路包括间充质干细胞和特异性标记物。附属组织包括骨，相关表型为额骨孔和巨脑。
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