Pitt-Hopkins syndrome: A case report of mild impairments and musical talents
Such PTHS case presentations further emphasize that individuals with mild medical and neurocognitive impairments could benefit from comprehensive genetics-informed care.
Authors
- Helen Root
- Caroline Leonczyk (ORCID: https://orcid.org/0000-0001-7884-5554)
- Sarah O’Kelley (ORCID: https://orcid.org/0000-0002-6025-0074)
- Kristi Carter Guest (ORCID: https://orcid.org/0000-0003-4279-8017)
- Zachary Enos Arnold (ORCID: https://orcid.org/0000-0003-1026-8089)
- Casie H. Morgan (ORCID: https://orcid.org/0000-0002-1515-6548)
Institutions
- Rush University Medical Center (US)
- Medical University of South Carolina (US)
- University of Alabama at Birmingham (US)
- Child & Family Service (US)
Publication Details
- Journal
- Translational Science of Rare Diseases
- Published
- 2024-11-06
- DOI
- https://doi.org/10.1177/22146490241291671
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Pitt Hopkins Research Foundation
- Johns Hopkins University
- University of Pittsburgh
- National Institute of Mental Health