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Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

✍ Scribed by E. Obersztyn; K. Szczaluba; M. Smyk; B. Ryniewicz; A. Fidzianska; B. Nowakowska; P. Stankiewicz; E. Bocian; T. Mazurczak

Book ID
114359235
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
57 KB
Volume
12
Category
Article
ISSN
1090-3798

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✍ Sugio, Yoshitsugu; Sugio, Yoko; Kuwano, Akira; Miyoshi, Osamu; Yamada, Kohki; Ni πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 21 KB πŸ‘ 2 views

A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 mi