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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)… Click to show full abstract
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 ILFS2 and SOPH syndrome. The mutation spectra of NBAS and its genotype–phenotype correlation among Chinese were not clear.
Keywords:
genotype phenotype;
phenotype correlation;
correlation among;
among chinese;
mutation
Journal Title: Hepatology Research
Year Published: 2020
Link to full text (if available)
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Journal Title: Hepatology Research
Year Published: 2020
Link to full text (if available)
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recommendations!