Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.

Autor: Yohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, Kiyosu Taniguchi, Hirotomo Saitsu, Tsutomu Ogata
Zdroj: Endocrine Journal; 2024, Vol. 71 Issue 1, p75-81, 7p
Databáze: Complementary Index