Browsing by Author "Perçin E.F."
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Complete androgen insensitivity syndrome with 45,XY,t(13q;14q) translocation (two cases)
Özdemir Ö.; Süngü S.; Perçin E.F.; Sezgin I. (2002)We report 2 cases of complete androgen insensitivity syndrome from 1 family with 45,XY,t(13q;14q) karyotype including complete testicular feminisation (TF) clinical features. The chromosomal translocation is not generally ... -
Larsen's syndrome with dental anomalies: Report of a case
Perçin E.F.; Gedik R.; Develio?lu H.; Kunt T. (2002)Dental anomalies and mixed-type hearing loss are extremely rare symptoms of Larsen's syndrome that is characterized by multiple joint dislocation and flat face. A 15-year-old Turkish girl affected with Larsen's syndrome ... -
A new syndrome with cardiac malformation, cleft lip?palate, microcephaly and digital anomalies?
Perçin E.F.; Düzcan F.; Kafali G.; Sezgin I. (1995)A family with cardiac malformation, cleft lip?palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature ...