Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.
Zhang J et al.
Molecular Genetics & Genomic Medicine, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Almannai M et al.
Clinical Genetics, 2022
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.
Suleiman J et al.
Clinical Genetics, 2018
Select a paper to view details