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Filters: Keyword is Phenotype and Author is Gleeson, Joseph G [Clear All Filters]
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 ;101(5-6):530-540.
. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 ;185(1):119-133.
. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 ;26(3):330-339.
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