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Townes syndrome

Known as: DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES, Renal-Ear-Anal-Radial Syndrome (Rear), Deafness, sensorineural, with imperforate anus and hypoplastic thumbs 
An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in… 
National Institutes of Health

Related topics

Related topics

28 relations
Accessory tragusAutosomal dominant inheritanceBifid scrotumBifid thumb

Broader (4)

Anus, ImperforateMultiple congenital anomaliesSensorineural Hearing Loss (disorder)Thumb structure

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Evidence for selective mortality in marine environments: the role of fish migration size, timing, and production type
The underlying causes of mortality during critical life stages of fish are not well understood, nor is it clear if these causes… 
2011
2011
Recent Advances on the Organocatalyzed Enantioselective α-heterofunctionalization of Carbonyl Compounds
Spanish Ministerio Ciencia e Innovacion (Consolider Ingenio 2010 CSD2007-00006, CTQ2007-65218/BQU) and the Generalitat Valenciana… 
Highly Cited
2006
Highly Cited
2006
Microtensile bond strength of self-adhesive luting cements to ceramic.
PURPOSE To test the null hypothesis that three self-adhesive luting materials had the same microtensile bond strength when used… 
2004
2004
Contribution of OATP 2 ( OATP 1 B 1 ) and OATP 8 ( OATP 1 B 3 ) to the Hepatic Uptake of Pitavastatin in Humans
Pitavastatin, a novel potent 3-hydroxymethylglutaryl-CoA reductase inhibitor, is selectively distributed to the liver in rats… 
2003
2003
Evaluation of depth filtration to remove prion challenge from an immune globulin preparation
Background and Objectives Plasma‐derived therapeutic proteins have the potential to contain transmissible spongiform… 
Highly Cited
2000
Highly Cited
2000
Angiogenesis, thymidine phosphorylase, and resistance of squamous cell head and neck cancer to cytotoxic and radiation therapy.
Thymidine phosphorylase (TP), an enzyme involved in the thymidine synthesis and degradation, has been shown to promote tumor… 
Highly Cited
1996
Highly Cited
1996
Role of electromagnetically induced transparency in resonant four-wave-mixing schemes.
The effect of electromagnetically induced transparency in resonant four-wave-mixing schemes is investigated in an analysis that… 
Review
1985
Review
1985
Two theories of sex and variation
1 My thanks to Ric Charnov, who helped organize these reviews, to the authors, who have performed magnificently, and to Arie van… 
1976
1976
Monozygotic twinning and the Duhamel anomalad (imperforate anus to sirenomelia): a nonrandom association between two aberrations in morphogenesis.
1966
1966
The association of lumbosacral spine and genitourinary anomalies with imperforate anus.
"Imperforate anus" is a syndrome of anomalies of organization of the caudal end of the body, frequently involving the…