Associated Papers
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
AlQudairy H et al.
Orphanet Journal of Rare Diseases, 2025
40781329 (PubMed )
Supplement: 13023_2025_3810_MOESM2_ESM.xlsx › Supp._Table_1
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D et al.
American Journal of Human Genetics, 2019
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