Zellweger syndrome, NGS


Genetic diagnosis of Zellweger syndrome; family counseling and clinical management.
Genelist (33): ABCD1, ABCD3, ACAA1, ACBD5, ACOX1, AGPS, AGXT, AMACR, CAT, DNM1L, DYM, EBP, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, TRIM37