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. 2024 Nov 12;19:423. doi: 10.1186/s13023-024-03369-6

Fig. 1.

Fig. 1

ST3GAL5 compound heterozygous variant in the GM3SD family. A Family Pedigree: Pedigree of the family members. The arrow indicates the patient. Squares represent males, and circles represent females. B Sequence analysis of the human ST3GAL5 gene: Sanger sequencing results showing that member III-1 had a compound heterozygote while the parents II-2 and II-3 were heterozygous carriers