A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene
由 SLC35D1 基因双等位基因错义变异引起的轻度骨骼发育不良
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作者：Tuna Eren Esen, Özlem Ünal Uzun, Ahmet Cevdet Ceylan
Conclusions
We identified a biallelic variant that was causative for a mild skeletal dysplasia and showed its phenotypic effects. Our observation confirms the existence of nonlethal skeletal dysplasias associated with biallelic SLC35D1 variants and suggests the existence of a phenotypic spectrum.
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