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Table 1 Clinical Manifestations and radiological findings of the 3 children

From: Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function

Patient ID Origin weeks of gestation Birth Weight Sex Age Height/Weight Dislocation of joint Hand Heart Spine Orthopedic surgery Heart surgery Mutations
Child 1 Chinese Han Term delivery ? Female 16 years 142 cm/32 kg – ? ? ? – – c.594G > A and c.734C > T
Child 2 Chinese Han Term delivery 2.4 kg Male 13 years ?/24 kg Hip, Metacarpophalangeal (mp), distal finger Bifurcation of the distal phalanx of the first finger Mitral valve prolapse with severe insufficiency Lumbar vertebra scoliosis + + c.594G > A and c.734C > T
Child 3 Chinese Han Term delivery 2.2 kg Female 8 years ?/18 kg Hip, Metacarpophalangeal (mp), distal finger (toe) Bifurcation of the distal phalanx of the first finger Mitral insufficiency, Atrial septal defect – + + c.594G > A and c.734C > T
  1. *?: unknow; −: no related performance; +: have related performance
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172