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HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME

Known as: HLTS 
National Institutes of Health

Related topics

Related topics

9 relations
Absent eyebrowAutosomal recessive inheritanceHypotrichosisSOX18 wt Allele

Broader (2)

LymphedemaTelangiectasis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome
Hypotrichosis–lymphedema–telangiectasia syndrome (HLTS) is a rare disorder caused by autosomal recessive and autosomal dominant… 
2016
2016
A new method to diagnose discoid lateral menisci on radiographs
PurposeThe aim of this study was to prove that it is feasible to diagnose discoid lateral meniscus in radiographs. Plain… 
2015
2015
Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome (HLTS… 
2012
2012
Development and validation of a general health literacy test in Singapore.
Due to the concern of equating correct pronunciation with comprehension and the differences in health care systems, existing… 
2011
2011
TLR2‐dependent modulation of dendritic cells by LT‐IIa‐B5, a novel mucosal adjuvant derived from a type II heat‐labile enterotoxin
A host of human pathogens invades the body at mucosal surfaces. Yet, strong, protective mucosal immune responses directed against… 
Highly Cited
2004
Highly Cited
2004
Explicating the Role of Mathematical Tasks in Conceptual Learning: An Elaboration of the Hypothetical Learning Trajectory
Simon's (1995) development of the construct of hypothetical learning trajectory (HLT) offered a description of key aspects of… 
2004
2004
A rabbit model for evaluation of surgical anesthesia and analgesia: characterization and validation with isoflurane anesthesia and fentanyl analgesia
PurposeWith a clamp test, quantitative estimation of the level of surgical anesthesia/analgesia is not easy. We have developed a… 
2003
2003
An Animal Model for Surgical Anesthesia and Analgesia: Characterization with Isoflurane Anesthesia and Remifentanil Analgesia
With a traditional clamp test alone, quantitative evaluation of the level of surgical anesthesia/analgesia is not easy. We have… 
1990
1990
Efficient signal coding with hierarchical lapped transforms
The hierarchical lapped transform (HLT) is defined. It is based on the modulated lapped transform (MLT). The HLT has a much lower… 
Highly Cited
1988
Highly Cited
1988
The pathology of combined heart-lung transplantation: an autopsy study.
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