Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review

BACKGROUND: Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations and study of the relation between SALL1 mutations and clinical features can fa...

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Detalles Bibliográficos
Autores principales: Wang, Zhendong, Sun, Zhenfu, Diao, Yujie, Wang, Zhouyang, Yang, Xiangdong, Jiang, Bei, Wu, Yumei, Liu, Guangyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466882/
https://www.ncbi.nlm.nih.gov/pubmed/37644569
http://dx.doi.org/10.1186/s13023-023-02874-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466882/
https://www.ncbi.nlm.nih.gov/pubmed/37644569
http://dx.doi.org/10.1186/s13023-023-02874-4

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