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MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE

Known as: Lethal multiple pterygium syndrome, Multiple pterygium syndrome lethal type, PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE 
A rare variant of multiple pterygium syndrome, characterized by severe athrogryposis, pterygium, akinesia and often hydrops fetalis and cystic… 
National Institutes of Health

Related topics

Related topics

17 relations
Autosomal recessive inheritanceCleft PalateCleft palate with cleft lipDislocations

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Near-Optimal Method for Siting and Sizing of Distributed Storage in a Transmission Network
Energy storage can alleviate the problems that the uncertainty and variability associated with renewable energy sources such as… 
Highly Cited
2009
Highly Cited
2009
Increased CD62e(+) endothelial microparticle levels predict poor outcome in pulmonary hypertension patients.
Highly Cited
2004
Highly Cited
2004
Extending the linear-quadratic model for large fraction doses pertinent to stereotactic radiotherapy.
Ongoing clinical trials designed to explore the use of extracranial stereotactic radiosurgery (ESR) for different tumour sites… 
Review
1998
Review
1998
Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.
Congenital diaphragmatic defects (CDDs) may occur in malformation syndromes of varied causes. Syndromic cases of CDDs due to… 
Highly Cited
1996
Highly Cited
1996
Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color.
Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment… 
Review
1996
Review
1996
The dilute-lethal (d l ) gene attacks a Ca2+ store in the dendritic spine of Purkinje cells in mice
Highly Cited
1994
Highly Cited
1994
Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
Highly Cited
1994
Highly Cited
1994
Peptidase activities of proteasomes are differentially regulated by the major histocompatibility complex-encoded genes for LMP2 and LMP7.
Recent studies have implicated proteasomes in the generation of the antigenic peptides that are presented on major… 
Highly Cited
1991
Highly Cited
1991
A proteasome-related gene between the two ABC transporter loci in the class II region of the human MHC
IT is now possible to paint a detailed picture of how cytoplasmic proteins are handled by the immune system1–7. They are… 
Review
1982
Review
1982
Limb pterygium syndromes: a review and report of eleven patients.
Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with… 
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