NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

Aim Neuroblastoma amplified sequence (NBAS)‐associated disease has a wide phenotypic spectrum, including infantile liver failure syndrome type 2 (ILFS2, OMIM #616483), short stature with optic nerve atrophy and Pelger–Huët anomaly (SOPH) syndrome (OMIM #614800), and a combined phenotype overlapping...

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Veröffentlicht in:	Hepatology research 2020-11, Vol.50 (11), p.1306-1315
Hauptverfasser:	Li, Zhong Die, Abuduxikuer, Kuerbanjiang, Zhang, Jing, Yang, Ye, Qiu, Yi‐Ling, Huang, Yuge, Xie, Xin‐Bao, Lu, Yi, Wang, Jian‐She
Format:	Artikel
Sprache:	eng
Schlagworte:	acute liver failure Atrophy Correlation analysis Fever Frameshift mutation Gene deletion Genotype & phenotype Genotypes genotype–phenotype correlation Immunoglobulins Insertion Intellectual disabilities Liver diseases Mutation NBAS Neuroblastoma Optic nerve Patients Phenotypes SOPH syndrome
Online-Zugang:	Volltext
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