Abstract Noonan syndrome [NS; Mendelian Inheritance in Men (MIM)# 163950] and related
syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD …

Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein
tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been …

Many new features have recently been incorporated to ÇEDD Çözüm/Child Metrics, an
online and freely accessible scientific toolset. Various auxological assessments can now be …

The BRAF gene encodes for a serine/threonine protein kinase that participates in the
MAPK/ERK signalling pathway and plays a vital role in cancers and developmental …

Short stature remains the most common reason for referral to a pediatric Endocrinologist and
its management remains a challenge. One of the main controversies is the diagnosis of …

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function
variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well …

The adaptation of Tibetans to high-altitude environments has been studied extensively.
However, the direct assessment of evolutionary adaptation, ie, the reproductive fitness of …

Noonan syndrome is characterized by short stature, congenital heart defects, broad or
webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus …

Noonan syndrome is a heterogeneous congenital disorder. The main features are typical
facial features, short stature and cardiac defects. The diagnosis is clinical: in 80% of patients …

Noonan syndrome (NS) is a disorder characterized by a typical facial gestalt, congenital
heart defects, variable cognitive deficits, skeletal defects, and short stature. NS is caused by …