Article
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
European journal of medical genetics - 1 Nov 2020
Suzuki Shigeru, Kokumai Takahide, Furuya Akiko, Nagamori Tsunehisa, Matsuo Kumihiro, Ueda Osamu, Mukai Tokuo, Ito Yoshiya, Yano Koichi, Fujieda Kenji, Okuno Akimasa, Tanahashi Yusuke, Azuma Hiroshi
Abstract excerpt
Biallelic neuroblastoma amplified sequence (NBAS) gene mutations have recently been identified to cause a reduction in its protein expression and a broad phenotypic spectrum, from isolated short stature, optic nerve atrophy, and Pelger-Huët anomaly (SOPH) syndrome or infantile liver failure syndrome 2 to a combined, multi-systemic disease including skeletal dysplasia and immunological and neurological...
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