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Congenital ptosis
- ... been found to cause a rare form of congenital fibrosis of the extraocular ... (ptosis). In addition, affected individuals have a brain malformation ...
- ... KIF21A gene have been identified in people with congenital fibrosis of the ... eyelids (ptosis). In addition, people with CFEOM3 can have intellectual ...
- ... 10 mutations in the TUBB3 gene can cause congenital fibrosis of the ... eyelids (ptosis). In addition, people with CFEOM3 can have intellectual ...
- ... a muscle disorder characterized by weakness, droopy eyelids (ptosis) and other distinctive facial features, joint deformities (contractures), ... W, Franzini-Armstrong C, Dirksen RT, Kuwada JY. Congenital myopathy results from misregulation of a muscle Ca2+ ...
- ... Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic ... LY, Dietz HC. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 ...