Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort.

doi:10.1007/s00431-026-06764-2

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Article

Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort.

European journal of pediatrics - 24 Jan 2026

Jirova Barbora, Najdekova Maria, Cerna Jana, Dusatkova Petra, Holotova Kristina, Kolouskova Stanislava, Kotvalova Ivana, Magnova Olga, Modrak Martin, Novotna Dana, Obermannova Barbora, Pavlicek Jan, Plachy Lukas, Pomahacova Renata, Pruhova Stepanka, Rezabkova Jitka, Strnadel Jiri, Snajderova Marta, Sumnik Zdenek, Zapletalova Jirina, Lebl Jan

Abstract excerpt

The variety of genes associated with Noonan syndrome spectrum disorders (NSSD) is expanding, and real-life experience with its management is increasing; however, phenotypic differences among genotypes remain poorly defined. We aimed to assess clinical characteristics and response to growth hormone (GH) therapy in a genetically confirmed, single-country multicentre NSSD cohort. We included 101 patients with NSSD...

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Identifiers

PMID: 41577878
DOI: 10.1007/s00431-026-06764-2
PMCID: PMC12830400

Genes

SOS1
PTPN11

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