... the FBN1 gene can cause another condition called MASS syndrome. This condition involves abnormalities in several parts of ... PubMed FIBRILLIN 1; FBN1 STIFF SKIN SYNDROME; SSKS MASS SYNDROME NCBI Gene ClinVar Ades LC, Sullivan K, Biggin ...

... Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal ...

... M. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A. 2013 Aug;161A( ...

... atrophy (neurogenic atrophy), leading to loss of muscle mass and impaired movement. Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in ...

... these organs and leading to a fluid-filled mass. Other genital abnormalities associated with McKusick-Kaufman syndrome can include a urethral opening on the underside ...

... de Vernejoul MC. LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. Joint Bone Spine. 2005 May;72(3): ...

... de Vernejoul MC. LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. Joint Bone Spine. 2005 May;72(3): ...

... or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, a reduced amount of facial and body hair, and fatigue. Klinefelter syndrome can make it difficult for people with this ...

... Wilson MC, Hogarty MD, Maris JM. Pediatric horner syndrome: etiologies and roles of imaging and urine studies to detect neuroblastoma and other responsible mass lesions. Am J Ophthalmol. 2006 Oct;142(4): ...

... in each cell (homozygotes) have significantly increased muscle mass and strength. People with a variant in one copy of the MSTN gene ... Genetic Testing Registry: Myostatin-related muscle hypertrophy National ...