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Updated: Jan 10, 2026

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
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通过3D面部形态测量推进基因型-表型分析:从Cri-du-Chat综合征的见解

Michiel Vanneste1,2, Harold Matthews1,2, Yoeri Sleyp1

  • 1Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

Journal of medical genetics
|November 20, 2025
PubMed
概括

三维 (3D) 形态测量精确量化了Cri-du-Chat综合征 (CdCS) 的面部变化. 这种先进的技术有助于诊断遗传疾病,并了解基因型-表型相关性.

关键词:
细胞遗传学分析遗传性疾病,先天性疾病.遗传学,医学,医疗现象型 现象型 是一种现象型.

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X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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