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Klinefelter’s syndrome complicated with West syndrome in a 4-month-old boy

✍ Scribed by Hirofumi Inoue; Tomoko Orita; Takeshi Matsushige; Shunji Hasegawa; Takashi Ichiyama

Book ID
113499028
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
671 KB
Volume
34
Category
Article
ISSN
0387-7604

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Dystrophinopathy in a young boy with Kli
Dystrophinopathy in a young boy with Klinefelter's syndrome
✍ L. Santoro; L. Pastore; P. Gasparo Rippa; A.V.M. Orsini; E. Del Giudice; G. Vita 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 327 KB

We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5-yearold boy was affected by some symptoms suggestive of Becker's muscular dystrophy. Dystrophin immunostaining and immunoblotting procedures confirmed the diagnosis, bu