: MeSH: Loeys-Dietz Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Loeys-Dietz Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Loeys-Dietz Syndrome

Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Loeys-Dietz Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Loeys-Dietz Syndrome

Cardiovascular Diseases > Vascular Diseases > Aneurysm > Aneurysm, Dissecting > Loeys-Dietz Syndrome

Cardiovascular Diseases > Vascular Diseases > Aneurysm > Aortic Aneurysm > Loeys-Dietz Syndrome

Cardiovascular Diseases > Vascular Diseases > Aortic Diseases > Aortic Aneurysm > Loeys-Dietz Syndrome

Loeys-Dietz Syndrome

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. Loeys-Dietz Syndrome with aortic aneurysm or dissection.

http://data.loterre.fr/ark:/67375/JVR-NM1HJTG3-R

RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 10/10/2018

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