Associated Papers
Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.
Abdelhamed Z et al.
Case Reports in Genetics, 2026
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
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
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.
Walter KN et al.
American Journal of Medical Genetics. Part A, 2006
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