Associated Papers
Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature.
Jung EH et al.
Ophthalmic Genetics, 2026
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
40433928 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Tabelle1
Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.
Panneman DM et al.
Investigative Ophthalmology & Visual Science, 2025
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS.
Li X et al.
Fetal and Pediatric Pathology, 2018
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