Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure

Biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene have been reported to cause two different clinical spectra: short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome and infantile liver failure syndrome 2 (ILFS2). Here, we describe a case of a 3-year-old...

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Gepubliceerd in:Hum Genome Var
Hoofdauteurs: Ono, Sahoko, Matsuda, Junko, Watanabe, Etsuko, Akaike, Hiroto, Teranishi, Hideto, Miyata, Ippei, Otomo, Takanobu, Sadahira, Yoshito, Mizuochi, Tatsuki, Kusano, Hironori, Kage, Masayoshi, Ueno, Hiroo, Yoshida, Kenichi, Shiraishi, Yuichi, Chiba, Kenichi, Tanaka, Hiroko, Miyano, Satoru, Ogawa, Seishi, Hayashi, Yasuhide, Kanegane, Hirokazu, Ouchi, Kazunobu
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2019
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323122/
https://ncbi.nlm.nih.gov/pubmed/30622725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0035-5
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