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Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47, XXY karyotype

✍ Scribed by F. Ferda Özkinay; Mete Akisü; Nilgün Kültürsay; Resmiye Oral; Nermin Tansug; Gül Sapmaz

Book ID
115091805
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
958 KB
Volume
50
Category
Article
ISSN
0009-9163

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Patient with an Xp21 contiguous gene del
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum
✍ Baranzini, Sergio E.; del Rey, Graciela; Nigro, Nora; Szijan, Irene; Chamoles, N 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 761 KB

The so-called Xp21 contiguous deletion syndrome or complex glycerol kinase deficiency (GKD) usually presents with classical Duchenne muscular dystrophy (DMD) or a milder dystrophic myopathy, adrenal hypoplasia, and GKD. A number of syndromic and nonsyndromic cases of agenesis of the corpus callosum