Associated Papers
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Leduc F et al.
European Journal of Human Genetics : Ejhg, 2025
40348827 (PubMed )
Supplement: 41431_2025_1855_MOESM2_ESM.xlsx › Table_3
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
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.
Böhm J et al.
American Journal of Medical Genetics. Part A, 2006
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