Patient with an Xp21 contiguous gene del
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Baranzini, Sergio E.; del Rey, Graciela; Nigro, Nora; Szijan, Irene; Chamoles, N
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Article
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1997
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John Wiley and Sons
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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