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Four patients including two sisters with the acrocallosal syndrome (Agenesis of the corpus callosum in combination with preaxial hexadactyly)

✍ Scribed by A. Schinzel


Publisher
Springer
Year
1982
Tongue
English
Weight
68 KB
Volume
62
Category
Article
ISSN
0340-6717

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Patient with an Xp21 contiguous gene del
✍ 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