Article

Patient-specific zebrafish models reveal a complex phenotypic spectrum in <i>NBAS</i> -associated Atypical Osteogenesis Imperfecta

2026-07-26

Abstract excerpt

<h4>ABSTRACT</h4> Neuroblastoma amplified sequence gene ( NBAS ) variants are associated with short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome. We previously identified compound heterozygous variants in NBAS to cause atypical Osteogenesis Imperfecta (OI), with these patients presenting with short stature, developmental delay and recurrent long-bone fractures. However, skeletal disease progr...

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Literature Corpus work: 61cfd4c2-21f9-5e98-83fb-a8832b835895
DOI: 10.64898/2026.07.24.740546

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