Article
Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.
European journal of medical genetics - 1 Sept 2013
Sakai Yasunari, Ohkubo Kazuhiro, Matsushita Yuki, Akamine Satoshi, Ishizaki Yoshito, Torisu Hiroyuki, Ihara Kenji, Sanefuji Masafumi, Kim Min-Seon, Lee Ki-Up, Shaw Chad A, Lim Janghoo, Nakabeppu Yusaku, Hara Toshiro
Abstract excerpt
The 5q14.3 deletion syndrome is a rare chromosomal disorder characterized by moderate to severe intellectual disability, seizures and dysmorphic features. We report a 14-year-old boy with 5q14.3 deletion syndrome who carried a heterozygous deletion of the myocyte-specific enhancer factor 2c (MEF2C) gene. In addition to the typical neurodevelopmental features of 5q14.3 deletion syndrome, he showed recurrent...
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