Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review - Poll - MDSpire

Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review

  • By

  • Hui Huang

  • Binyang Zhu

  • Zaisheng Wang

  • Zhuqiang Wu

  • Jinqiu Rao

  • Yu Yang

  • Xiangyu Xiong

  • July 17, 2026

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Original Source(s)

Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review

  • by Hui Huang, Binyang Zhu, Zaisheng Wang, Zhuqiang Wu, Jinqiu Rao, Yu Yang, Xiangyu Xiong

  • July 17, 2026

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