Autor: Hui Liu

Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China

Nov 6, 2025

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por

Hui Liu

en Articulos, Case Report, Enfermedades Raras, Frontiers in Genetics

BackgroundD-bifunctional protein deficiency (D-BPD) is a rare fatal autosomal recessive peroxisomal disorder caused by biallelic pathogenic mutations in the hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4) gene; it is characterized by hypotonia, seizur…