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SETBP1 Society
  • About Us
    • Faces of SETBP1
    • Our Mission
    • Board of Directors
    • Medical & Scientific Advisory Board
    • Volunteers
    • Partners
  • For Families
    • Newly Diagnosed
    • SETBP1 Society Contact Registry
    • Common Questions
    • SETBP1 Community Map
    • Understanding SETBP1 Science
    • Research Opportunities
    • Doctors Studying SETBP1-HD
    • State Waivers
    • Get Involved
  • Resources
    • Newsletters
    • Videos
  • Research
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Month: December 2024

Bite-Sized Breakthroughs – December 18, 2024

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Bite-Sized Breakthroughs – December 18, 2024

by haley / On December 18, 2024Posted in Featured, Research, Resources

SETBP1 Genetics: Bite-Sized Breakthroughs Breaking down new breakthroughs in SETBP1 research in an easy to digest way Welcome to our 4th “SETBP1 Genetics: Bite-sized Breakthrough”. This time, we are looking at a breakthrough article published in Clinical Genetics in 2024 by Haley O Oyler from SETBP1 Society and an esteemed team of medical and professional […]

What is SETBP1?

SETBP1 haploinsufficiency disorder is a very rare disorder that is the result of a loss-of-function of one copy of the SETBP1 gene and causes a spectrum of symptoms ranging from absent speech to expressive language delays, mild-severe intellectual disability, autistic-traits or autism, developmental delays and ADHD.

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SETBP1 Haploinsufficiency Disorder guide >

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