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Table 3 Clinical symptoms identified in the patients presenting with osteopoikilosis.

From: Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

  Patient IV:15 Patient IV:17 Patient III:13 Patient III:10 Patient IV:8
  (female; 26 years) (female; 24 years) (male; 60 years) (female; 54 years) (male; 19 years)
EXT1 mutation status p.A578T p.A578T p.A578T - -
Painful hands and feet + + + + +
Dermatofibrosis - - - + -
Additional skin changes - - Vitiligo - -
Other symptoms/disorders TOF, Ovarian cyst Sinus cyst DM2 - -
Laboratory tests (Ca, P, AP, ACP) NE NE NE Normal NE
  1. TOF - tetralogy of Fallot; DM2 - diabetes mellitus type 2; NE - not examined; Ca - calcium; P - phosphate; AP - alkaline phosphatase; ACP - acid phosphatase