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VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or lab …
Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. T …
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Wang Z, Sun Z, Diao Y, Wang Z, Yang X, Jiang B, Wu Y, Liu G. Wang Z, et al. Orphanet J Rare Dis. 2023 Aug 29;18(1):250. doi: 10.1186/s13023-023-02874-4. Orphanet J Rare Dis. 2023. PMID: 37644569 Free PMC article. Review.
BACKGROUND: Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations and study of the …
BACKGROUND: Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clin …
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Beaudoux O, Lebre AS, Doco Fenzy M, Spodenkiewicz M, Canivet E, Colosio C, Poirsier C. Beaudoux O, et al. Am J Med Genet A. 2021 Mar;185(3):937-944. doi: 10.1002/ajmg.a.62050. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438842 Review.
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad of anorectal, thumb, and ear malformations. ...The circumstances of renal failure diagnosis were inc …
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene a …
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.
Innoceta AM, Olivucci G, Parmeggiani G, Scarano E, Pragliola A, Graziano C. Innoceta AM, et al. Genes (Basel). 2023 Jan 19;14(2):258. doi: 10.3390/genes14020258. Genes (Basel). 2023. PMID: 36833185 Free PMC article. Review.
SALL1 heterozygous pathogenic variants cause Townes-Brocks syndrome (TBS), a condition with variable clinical presentation. ...We report on a family with autosomal dominant hearing impairment and mild anal and skeletal anomalies, in whom a novel 350 kb SALL1 …
SALL1 heterozygous pathogenic variants cause Townes-Brocks syndrome (TBS), a condition with variable clinical presentat …
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.
Liang Y, Shen D, Cai W. Liang Y, et al. J Pediatr Surg. 2008 Feb;43(2):391-3. doi: 10.1016/j.jpedsurg.2007.09.079. J Pediatr Surg. 2008. PMID: 18280297 Review.
Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by imperforate anus and limb and ear malformations with sensorineural hearing loss. Mutations in SALL1, a gene mapping to chromosome 16q21.1, are resp …
Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by imperforate an …