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Keywords: Schneckenbecken dysplasia
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Journal Articles
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene
Available to Purchase
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (6): 498–503.
Published Online: 07 June 2023
...Tuna Eren Esen; Özlem Ünal Uzun; Ahmet Cevdet Ceylan Introduction: Biallelic variants in the SCL35D1 gene have been originally associated with a severe skeletal dysplasia called “Schneckenbecken dysplasia” because of the resemblance of the pelvic shape to a snail. More recently, SLC35D1 variants...
