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
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly.
van den Akker PC et al.
American Journal of Medical Genetics. Part A, 2009
Somatic mosaicism and variable expression of Townes-Brocks syndrome.
Devriendt K et al.
American Journal of Medical Genetics, 2002
Select a paper to view details