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与FGFR1相关的骨质形发育不良症的新表型特征

Amna A Othman1, Holly E Babcock1,2, Corey S Gill3

  • 1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

American journal of medical genetics. Part A
|April 22, 2025
PubMed
概括

骨类形发育不良 (OGD) 是一种罕见的骨疾病,由FGFR1变体引起,呈现出骨突变和面问题. 本报告详细介绍了两个OGD病例,扩大了已知的临床特征,并有助于差异诊断.

关键词:
一个FGFR1.头骨突突症 (craniosynostosis) 是一种低酸盐血症是什么意思受影响的牙受影响的牙没有骨化的纤维瘤.骨质格洛声性发育不良症骨发育不良症 骨发育不良症

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