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

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

Abstract 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 feature...

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Bibliographic Details
Main Authors: Zhendong Wang, Zhenfu Sun, Yujie Diao, Zhouyang Wang, Xiangdong Yang, Bei Jiang, Yumei Wu, Guangyi Liu
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Townes-Brocks syndrome
Whole-exome sequencing
SALL1
Alphafold
Genotype
Renal phenotype
Online Access:https://doi.org/10.1186/s13023-023-02874-4

Internet

https://doi.org/10.1186/s13023-023-02874-4

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