Inactivating mutations in the gene for cartilage‐associated protein (CRTAP) cause osteogenesis imperfecta type VII in humans, with a phenotype that can include craniofacial defects. Dental and craniofacial manifestations have not been a focus of case reports to date. We analyzed the craniofacial and dental phenotype of Crtap ^−/− mice by skull measurements, micro‐computed tomography (micro‐CT), histology, and immunohistochemistry.

中文翻译：

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VII型成骨不全症Crtap-/-小鼠模型中的牙齿和颅面缺陷。

软骨相关蛋白 (CRTAP) 基因的失活突变导致人类成骨不全 VII 型，其表型可能包括颅面缺陷。迄今为止，牙齿和颅面表现尚未成为病例报告的重点。我们通过颅骨测量、显微计算机断层扫描 (micro-CT)、组织学和免疫组织化学分析了Crtap ^-/-小鼠的颅面和牙齿表型。