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Article

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Human molecular genetics - 1 Nov 2019

Rautengarten Carsten, Quarrell Oliver W, Stals Karen, Caswell Richard C, De Franco Elisa, Baple Emma, Burgess Nadia, Jokhi Roobin, Heazlewood Joshua L, Offiah Amaka C, Ebert Berit, Ellard Sian

Abstract excerpt

We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents were heterozygous for a novel missense variant, p.(Pro133Leu), in the SLC35D1 gene encoding a nucleotide sugar transporter. The affected fetus was homozygous for the variant. The radiological features...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Loss of Function Mutation

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Source

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Identifiers

PMID: 31423530
DOI: 10.1093/hmg/ddz200
PMCID: PMC6927460

Genes

SLC35D1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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