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Article

A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree.

American journal of medical genetics. Part A - 1 Oct 2022

Özer Leyla, Aktuna Suleyman, Unsal Evrim, Ünal Mehmet Altay, Sahin Guler, Baltaci Volkan

Abstract excerpt

SLC35D1 gene encodes UDP-glucuronic acid/UDP-n-acetylgalactosamine dual transporter protein and transports organic or inorganic molecules across cellular membranes. SLC35D1 gene pathogenic variants causes Schneckenbecken dysplasia (SHNKND) which is a rare lethal autosomal recessive disorder characterized by the snail-like pelvis, flattening of vertebral bodies, short and broad long bones with a dumbbell-like...

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PMID: 35934917
DOI: 10.1002/ajmg.a.62939

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