Case Report: A novel de novo heterozygous truncating mutation in MED12L identified in a Chinese autistic boy - Top-Institutions - MDSpire

Case Report: A novel de novo heterozygous truncating mutation in MED12L identified in a Chinese autistic boy

  • By

  • Zhiliu Wu

  • Chuanyong Xu

  • Jierong Chen

  • Zhen Wei

  • July 13, 2026

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Top Institutions in Psychiatry

Brief introduction explaining scope and methodology.

  • #1

    Yinchuan First People's Hospital
    Yinchuan First People's Hospital

    Yinchuan, Ningxia

    Key Differentiators

    • Medical Genetics

  • #2

    Shenzhen Maternity and Child Healthcare Hospital
    Shenzhen Maternity and Child Healthcare Hospital

    Shenzhen, Guangdong

    Key Differentiators

    • Medical Genetics

  • #3

    Quanzhou Women's and Children's Hospital
    Quanzhou Women's and Children's Hospital

    Quanzhou, Fujian

    Key Differentiators

    • Medical Genetics

  • #4

    Central Laboratory of Genetics and Metabolism
    Central Laboratory of Genetics and Metabolism

    Unknown, Unknown

    Key Differentiators

    • Medical Genetics

  • #5

    Erasmus MC
    Erasmus MC

    Rotterdam, South Holland

    Key Differentiators

    • Medical Genetics

Original Source(s)

Case Report: A novel de novo heterozygous truncating mutation in MED12L identified in a Chinese autistic boy

  • by Zhiliu Wu, Chuanyong Xu, Jierong Chen, Zhen Wei

  • July 13, 2026

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