Longitudinal outcomes in Noonan syndrome.

doi:10.1016/j.gim.2025.101355

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Article

Longitudinal outcomes in Noonan syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2025

Rippert Alyssa L, Reef Rebecca, Mani Ashika, Stefanatos Arianna K, Ahrens-Nicklas Rebecca C

Abstract excerpt

PURPOSE: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted before widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS. METHODS: Comprehensive medical, developmental, and health care utilization (HCU) data...

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Topics

Humans
Noonan Syndrome
Male
Female
Child
Child, Preschool
Adolescent

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Infant

Longitudinal Studies

Adult

Developmental Disabilities

Genetic Testing

Young Adult

Genotype

Source

Open in PubMed

Identifiers

PMID: 39807623
DOI: 10.1016/j.gim.2025.101355

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