Loeys-Dietz Syndrome is characterized by all of the following Except
Correct Answer: Mutations in the gene encoding filamin A (FLNA)
Description: Loeys-Dietz syndrome is phenotypically distinct from Marfan syndrome. It is characterized as an aneurysmal syndrome with widespread systemic involvement. Loeys-Dietz syndrome is an aggressive, autosomal dominant condition that is distinguished by the triad of aerial touosity and aneurysms, hypeelorism (widely spaced eyes), and bifid uvula or cleft palate. It is caused by heterozygous mutations in the genes encoding TGF-b receptors. ref - Harrisons nternal medicine 20e pg 1667, 1918, 1920, 2976
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