Case Report: A de novo NSD2 multiple exon deletion variant in a child with Rauch-Steindl syndrome - Top-Institutions - MDSpire

Case Report: A de novo NSD2 multiple exon deletion variant in a child with Rauch-Steindl syndrome

  • By

  • Chanchan Li

  • Mingyu Xie

  • Qi Peng

  • Xiaomei Lu

  • Baimao Zhong

  • May 15, 2026

  • 0 min

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Top Institutions in Pediatrics

Brief introduction explaining scope and methodology.

  • #1

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

    Unknown, Unknown

    Key Differentiators

    • Medical Genetics

  • #2

    San Gerardo Hospital
    San Gerardo Hospital

    Monza, Lombardy

    Key Differentiators

    • Pediatrics
    • Clinical Genetics

  • #3

    Erasmus MC
    Erasmus MC

    Rotterdam, South Holland

    Key Differentiators

    • Medical Genetics

Original Source(s)

Case Report: A de novo NSD2 multiple exon deletion variant in a child with Rauch-Steindl syndrome

  • by Chanchan Li, Mingyu Xie, Qi Peng, Xiaomei Lu, Baimao Zhong

  • May 15, 2026

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