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
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.
Liu X et al.
Nephrology (carlton, Vic.), 2024
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
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
Endocrine abnormalities in Townes-Brocks syndrome.
Lawrence C et al.
American Journal of Medical Genetics. Part A, 2013
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
Vodopiutz J et al.
The Journal of Pediatrics, 2013
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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