SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype-Reference-Cited by-同舟云学术

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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Published:2005-09 Issue:3 Volume:26 Page:282-282
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Botzenhart Elke M.,Green Andrew,Ilyina Helena,König Rainer,Lowry R. Brian,Lo Ivan F. M.,Shohat Mordechai,Burke Leah,McGaughran Julie,Chafai Ronit,Pierquin Geneviève,Michaelis Ron C,Whiteford Margo L.,Simola Kalle O. J.,Rösler Bernd,Kohlhase Jürgen

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 56 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome;Italian Journal of Pediatrics;2024-06-24

2. Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing;Kidney International Reports;2024-06

3. A novel heterozygous variant of the SALL1 gene with atypical Townes‐Brocks syndrome phenotypes in Chinese family;Nephrology;2024-04-07

4. Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review;Orphanet Journal of Rare Diseases;2023-08-29

5. Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT);Pediatric Nephrology;2023-07-20

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