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The limb-girdle muscular dystrophies (LGMDs) are genetically determined progressive disorders clinically defined by the primary involvement of the pelvic and shoulder girdle musculature. Among(More)
van der Woude syndrome (VWS), which has been mapped to 1q32-41, is characterized by pits and/or sinuses of the lower lip, cleft lip/palate (CL/P), cleft palate (CP), bifid uvula, and hypodontia (H).(More)
The 677 C → T polymorphism in the 5-10 methylenetetrahydrofolate reductase (MTHFR) gene has been associated with nonsyndromic cleft lip with or without cleft palate (CL/P) in some populations, but(More)
The purpose of this investigation was to analyze the CTG expansion in muscle as compared to lymphocytes DNA in a sample of selected myotonic dystrophy (DM) patients of different ages and degrees of(More)