Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome

Noonan syndrome (NS) is caused by pathogenic variants in genes encoding components of the RAS/MAPK pathway and presents with a number of symptoms, including characteristic facial features, congenital heart diseases, and short stature. Advances in genetic analyses have contributed to the identificati...

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Veröffentlicht in:	Clinical Pediatric Endocrinology 2024, Vol.33(2), pp.50-58
Hauptverfasser:	Shoji, Yasuko, Hata, Ayaha, Maeyama, Takatoshi, Wada, Tamaki, Hasegawa, Yuiko, Nishi, Eriko, Ida, Shinobu, Etani, Yuri, Niihori, Tetsuya, Aoki, Yoko, Okamoto, Nobuhiko, Kawai, Masanobu
Format:	Artikel
Sprache:	eng
Schlagworte:	body mass index genotype Noonan syndrome Original short stature
Online-Zugang:	Volltext
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