A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review - Top-Institutions - MDSpire

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review

  • By

  • Yousaf, Hammad

  • Zonash, Zehra

  • Manzoor, Javeria

  • Ali, Asmat

  • Khalid, Lubaba Bintee

  • Zafar, Ghazala

  • Ali, Sajid

  • Toft, Mathias

  • Fatima, Ambrin

  • Iqbal, Zafar

  • April 29, 2026

  • 0 min

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Top Institutions in Neurology

Brief introduction explaining scope and methodology.

  • #1

    Children’s Hospital of Philadelphia
    Children’s Hospital of Philadelphia

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    Key Differentiators

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    • Pediatrics

  • #2

    Children’s National Hospital
    Children’s National Hospital

    Washington, District of Columbia

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    • Pediatrics

  • #3

    Erasmus MC
    Erasmus MC

    Rotterdam, Netherlands

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    • Genetics
    • Clinical Research

  • #4

    Tohoku University School of Medicine
    Tohoku University School of Medicine

    Sendai, Japan

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    • Genetics
    • Medicine

  • #5

    Osaka-City General Hospital
    Osaka-City General Hospital

    Osaka, Japan

    Key Differentiators

    • Genetics
    • Clinical Medicine

Original Source(s)

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review

  • by Yousaf, Hammad , Zonash, Zehra , Manzoor, Javeria , Ali, Asmat , Khalid, Lubaba Bintee, Zafar, Ghazala , Ali, Sajid , Toft, Mathias , Fatima, Ambrin , Iqbal, Zafar

  • April 29, 2026

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