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Article

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

Journal of clinical research in pediatric endocrinology - 11 Mar 2024

Yıldırım Ruken, Unal Edip, Özalkak Şervan, Akalın Akçahan, Aykut Ayça, Yılmaz Nevzat

Abstract excerpt

Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The...

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Identifiers

PMID: 37847107
DOI: 10.4274/jcrpe.galenos.2023.2023-5-16
PMCID: PMC10938517

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