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Updated: Jul 17, 2025

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埃及患有Treacher Collins综合征的患者的临床和分子研究

Nagham M Elbagoury1, Amira Nabil2, Asmaa F Abdel-Aleem1

  • 1Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre.

Clinical dysmorphology
|August 30, 2023
PubMed
概括

这项研究在埃及患者中发现了TCOF1和POLR1D基因的新突变,这些患者患有Treacher Collins综合征 (TCS). 这项研究扩展了已知的TCS遗传原因,并帮助受影响家庭的遗传咨询.

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