A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature

Abstract Background Coffin-Siris syndrome is a clinically elusive and rare genetic disease characterized by a wide range of clinical manifestations. This study deeply analyzed and identified the clinical phenotype and genetic variant location in a pediatric patient with Coffin-Siris syndrome, aiming...

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Autori principali: Guibin Bai (Autore), Rougang Yuan (Autore), Jian Yuan (Autore), Yanqin Liu (Autore), Shaozhi Zhao (Autore), Xinwen Zhang (Autore)
Natura: Libro
Pubblicazione: BMC, 2024-11-01T00:00:00Z.
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