A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
Suzuki S, Kokumai T, Furuya A, Nagamori T, Matsuo K, Ueda O, Mukai T, Ito Y, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H.
Suzuki S, et al. Among authors: nagamori t.
Eur J Med Genet. 2020 Nov;63(11):104039. doi: 10.1016/j.ejmg.2020.104039. Epub 2020 Aug 14.
Eur J Med Genet. 2020.
PMID: 32805445