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Radiological features of an ossifying subperiosteal hematoma in a patient with severe motor and intellectual disability

✍ Scribed by Atsushi Sakurai; Toshikazu Masuda; Takashi Yoshiba; Takuji Hanaoka; Koji Kaneko


Publisher
Springer Japan
Year
2011
Tongue
English
Weight
249 KB
Volume
16
Category
Article
ISSN
0949-2658

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## Abstract Recent studies have shown that haploinsufficiency of __MEF2C__ causes severe intellectual disability, epilepsy, hypotonia, and cerebral malformations. We report on a female patient with severe intellectual disability, early‐onset epileptic encephalopathy, and hypoplastic corpus callosum