Associated Papers
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.
Liu X et al.
Nephrology (carlton, Vic.), 2024
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
Yan X et al.
Journal of Medical Genetics, 2024
38296632 (PubMed )
Supplement: jmg-2023-109579supp006.pdf
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Wang Z et al.
Orphanet Journal of Rare Diseases, 2023
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report.
Fang JX et al.
World Journal of Clinical Cases, 2022
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.
Miller EM et al.
American Journal of Medical Genetics. Part A, 2012
Defining the heterochromatin localization and repression domains of SALL1.
Netzer C et al.
Biochimica Et Biophysica Acta, 2006
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
Kiefer SM et al.
Human Molecular Genetics, 2003
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