Gene/Protein
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Enzyme
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Pivot Concepts:
Gene/Protein
Disease
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Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0262471 (
ENT
)
5,307
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Laurence-Moon-Biedl-Bardet Syndrome is a rare hereditary autosomal recessive disease. It is clinically characterised by a pentad of congenital defects e.g. poly or syndactyly, mental retardation, obesity, hypogenitalism and
retinitis pigmentosa
. Five cases of the syndrome with additional
ENT
features are presented. The salient features of the condition are discussed in the light of available literatures.
...
PMID:Ear, nose and throat manifestations in Laurence-Moon-Biedl-Bardet Syndrome. 2311 60