Associated Papers
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
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.
Lin FJ et al.
Experimental and Therapeutic Medicine, 2016
Mining exomic sequencing data to identify mutated antigens recognized by adoptively transferred tumor-reactive T cells.
Robbins PF et al.
Nature Medicine, 2013
23644516 (PubMed )
Supplement: NIHMS455421-supplement-2.pdf
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