A p.D116G mutation in CREB1 leads to nov
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Sohei Kitazawa; Takeshi Kondo; Kiyoshi Mori; Naoki Yokoyama; Masafumi Matsuo; Ri
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Article
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2012
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John Wiley and Sons
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English
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We evaluated an autopsy case with severe neonatal respiratory distress, hypoplasia of thymus, thyroid gland and cerebellum, and agenesis of the corpus callosum displaying striking phenotypic similarity to the CrebA knockout mouse. On the assumption that comparable genetic alterations must be present