Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
Sparber P et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.
Badura-Stronka M et al.
Journal of Applied Genetics, 2025
Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center.
David O et al.
Frontiers in Pediatrics, 2022
Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.
Battini R et al.
Brain & Development, 2021
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A et al.
American Journal of Human Genetics, 2016
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.
Aminzadeh M et al.
Jornal De Pediatria, 0
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