A Stepwise Approach to Macrocephaly: Clinical Clues to the Rare Diagnosis of PTEN Hamartoma Tumor Syndrome
scores in combination with other features as a triage tool for genetic identification of disorders such as PHTS.
Authors
- Natasha Shur (ORCID: https://orcid.org/0000-0003-1336-747X)
- Nidhi Gupta (ORCID: https://orcid.org/0009-0000-4812-6444)
- Seth Berger (ORCID: https://orcid.org/0000-0001-7517-4302)
Institutions
- Northwell Health (US)
- George Washington University (US)
- National Hospital (IN)
- Ambry Genetics (United States) (US)
Publication Details
- Journal
- Pediatric Annals
- Published
- 2026-04-01
- DOI
- https://doi.org/10.3928/19382359-20260309-02
- Primary Topic
- PI3K/AKT/mTOR signaling in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00