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Cardiac mass
- ... large blood vessel that distributes blood from the heart to the rest of the body), the skeleton, and the skin.It is unknown why different mutations in the FBN1 gene cause such a ... NCBI Gene ClinVar Ades LC, Sullivan K, ...
- ... atrophy (neurogenic atrophy), leading to loss of muscle mass and impaired movement. ... heart problems such as irregular heartbeats (arrhythmia) and a ...
- ... separates the upper or lower chambers of the heart. A genital abnormality ... Other genital abnormalities associated with McKusick-Kaufman syndrome ...
- ... first noticed because of abdominal swelling or a mass in the kidney that can be felt upon ... treatment in adulthood, such as decreased kidney function, heart disease, and development of additional cancers. Wilms tumor ...
- ... elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003 Aug;54( ...
- ... TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping ...