Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome-Reference-Cited by-同舟云学术

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Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

Published:2006-02 Issue:2 Volume:27 Page:211-212
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Borozdin Wiktor,Steinmann Katharina,Albrecht Beate,Bottani Armand,Devriendt Koenraad,Leipoldt Michael,Kohlhase Jürgen

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 70 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

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3. Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome;Genes;2023-01-19

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