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GNPTAB c.10A>C/p.K4Q ML clinical features in three unrelated patients: short stature, normocephaly, coarse facies, limited mobility in all joints, short and broad hands with fingers postured in ulnar deviation. A1 and A2: Patient 1 at 8 and 12 years; B: Patient 2 at 6 years; C1 and C2: Patient 3 at 8 and 20 years.
