Associated Papers
Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.
Liang R et al.
Bmc Pediatrics, 2025
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
37644569 (PubMed )
Supplement: 13023_2023_2874_MOESM1_ESM.docx
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.
Innoceta AM et al.
Genes, 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
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
Bozal-Basterra L et al.
American Journal of Human Genetics, 2018
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
Phenotypic variability in a family with Townes-Brocks syndrome.
Sudo Y et al.
Journal of Human Genetics, 2010
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.
Furniss D et al.
Journal of Medical Genetics, 2009
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
Furniss D et al.
American Journal of Medical Genetics. Part A, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Botzenhart EM et al.
Human Mutation, 2007
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