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Results 1 - 5 of 5 for Congenital ptosis
  1. ... been found to cause a rare form of congenital fibrosis of the extraocular ... (ptosis). In addition, affected individuals have a brain malformation ...
  2. ... KIF21A gene have been identified in people with congenital fibrosis of the ... eyelids (ptosis). In addition, people with CFEOM3 can have intellectual ...
  3. ... 10 mutations in the TUBB3 gene can cause congenital fibrosis of the ... eyelids (ptosis). In addition, people with CFEOM3 can have intellectual ...
  4. ... 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+ ...
  5. ... 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 ...