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See Latest ArticlesA novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum
European Journal of Pediatrics, 10/12/09
Koehler U et al. – The authors report another case of a microdeletion with involvement of the NFIA gene in the short arm of chromosome 1 with, amongst other features, hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features. A microdeletion 1p31.3p32.2 which includes the NFIA gene is associated with hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features.
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Neonatal seizures and Long QT Syndrome: A cardiocerebral channelopathy
Epilepsia, 11/10/09
BTNL2 gene polymorphisms may be associated with susceptibility to Kawasaki disease and formation of coronary artery lesions in Taiwanese children
European Journal of Pediatrics, 11/05/09
Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew
Current Opinion in Pediatrics, 11/02/09
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