Claudia Santoro
Via Luigi De Crecchio 2
Naples, 80138, Italy
Naples, 80138, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 67 publications
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Journal: Breast (Edinburgh, Scotland)
Published: September 15, 2025
Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study.
Journal: Orphanet journal of rare diseases
Published: July 21, 2025
Cerebrovascular involvement in hereditary spherocytosis: observational cohort and case-control MRI study.
Journal: Orphanet journal of rare diseases
Published: June 05, 2025
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.
Journal: Genetics in medicine open
Published: May 05, 2025
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.
Journal: Children (Basel, Switzerland)
Published: January 30, 2025
Severe cervical kyphosis in a complex child with NF1, case report and literature review.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: December 11, 2024
Consensus recommendations on management of selumetinib-associated adverse events in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas.
Journal: Neuro-oncology practice
Published: September 16, 2024
Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility.
Journal: Children (Basel, Switzerland)
Published: July 23, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 03, 2024
Response letter to: Halo-like phenomenon in neurofibromatosis type 1: A potential new diagnostic criterion.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: November 08, 2023
Last Updated: 09/26/2026