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Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

✍ Scribed by Garcia-Miñaur, Sixto; Mavrogiannis, Lampros A; Rannan-Eliya, Sahan V; Hendry, Michael A; Liston, William A; Porteous, Mary E M; Wilkie, Andrew O M


Book ID
110025473
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
107 KB
Volume
11
Category
Article
ISSN
1018-4813

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## Abstract We describe two affected individuals in a family with myoclonus–dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the ε‐sarcoglycan gene, which we show leads to skipping of exon 5.