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Keywords: Snail-shaped ilia
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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
... SLC35D1 Schneckenbecken dysplasia Spondylodysplastic dysplasias Snail-shaped ilia Established Facts Schneckenbecken dysplasia (SBD) is a rare skeletal dysplasia with only a few reported cases. SBD has severe skeletal findings and results in death in the prenatal and early postnatal...
