Novel LIFR Variant Identified in Stuve-Wiedemann Syndrome - Top-Institutions - MDSpire

Novel LIFR Variant Identified in Stuve-Wiedemann Syndrome

Case report highlights the role of early genetic confirmation in severe skeletal dysplasia

  • By

  • Henry Thomas

  • February 10, 2026

  • 2 min

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Top Institutions in Pediatrics

Brief introduction explaining scope and methodology.

  • #1

    National Institutes of Health (NIH) - National Human Genome Research Institute (NHGRI)
    National Institutes of Health (NIH) - National Human Genome Research Institute (NHGRI)

    Bethesda, MD

    Key Differentiators

    • Medical Genetics
    • Genomic Medicine
    • Rare Disease Research

  • #2

    Johns Hopkins University School of Medicine
    Johns Hopkins University School of Medicine

    Baltimore, MD

    Key Differentiators

    • Medical Genetics
    • Pediatric Orthopedics
    • Rare Skeletal Dysplasias

  • #3

    University of Washington - Center for Mendelian Genomics
    University of Washington - Center for Mendelian Genomics

    Seattle, WA

    Key Differentiators

    • Genomic Medicine
    • Rare Disease Genetics
    • Skeletal Dysplasias

  • #4

    Boston Children's Hospital - Program in Skeletal Dysplasias
    Boston Children's Hospital - Program in Skeletal Dysplasias

    Boston, MA

    Key Differentiators

    • Pediatric Genetics
    • Orthopedics
    • Rare Skeletal Disorders

  • #5

    University of Cambridge - Department of Medical Genetics
    University of Cambridge - Department of Medical Genetics

    Cambridge, UK

    Key Differentiators

    • Medical Genetics
    • Rare Disease Genomics
    • Skeletal Dysplasias

Original Source(s)

Novel LIFR Variant Identified in Stuve-Wiedemann Syndrome

  • by Henry Thomas

  • February 10, 2026

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