"Loeys-Dietz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
| Descriptor ID |
D055947
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| MeSH Number(s) |
C05.660.207.532 C14.907.055.050.362 C14.907.055.239.587 C14.907.109.139.587 C16.131.077.537 C16.320.510
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Loeys-Dietz Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Loeys-Dietz Syndrome".
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Below are the most recent publications written about "Loeys-Dietz Syndrome" by people in Profiles.