Associated Papers
D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.
Erdal AE et al.
Molecular Syndromology, 2026
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships.
Sund KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
D-bifunctional protein deficiency associated with drug resistant infantile spasms.
Buoni S et al.
Brain & Development, 2007
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