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Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

✍ Scribed by Mignon-Ravix, Cécile (author);Cacciagli, Pierre (author);El-Waly, Bilal (author);Moncla, Anne (author);Milh, Mathieu (author);Girard, Nadine (author);Chabrol, Brigitte (author);Philip, Nicole (author);Villard, Laurent (author)


Book ID
121438537
Publisher
BMJ Publishing Group
Year
2009
Tongue
English
Weight
359 KB
Volume
47
Category
Article
ISSN
0022-2593

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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