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...
Salvato in:
Autori principali: | , , , , , |
---|---|
Natura: | Libro |
Pubblicazione: |
BMC,
2024-11-01T00:00:00Z.
|
Soggetti: | |
Accesso online: | Connect to this object online. |
Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne!!
|
Accesso online
Connect to this object online.3rd Floor Main Library
Collocazione: |
A1234.567 |
---|---|
Copia 1 | Disponibile |