A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
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Author / Creator
Chi, Yunqian , Yao, Yi , Sun, Futao , Zhang, Wenhong , Zhang, Zihan , Wang, Yunhe and Hao, Wei
Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Contents
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors...
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Full title
A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_0c3ca6614bb4405baf4f0a920e6ecb01
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0c3ca6614bb4405baf4f0a920e6ecb01
Other Identifiers
ISSN
1824-7288,1720-8424
E-ISSN
1824-7288
DOI
10.1186/s13052-024-01691-0
