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Article

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.

BMC pediatrics - 26 Jan 2022

Rajabi Fatemeh, Bereshneh Ali Hosseini, Ramezanzadeh Mahboubeh, Garshasbi Masoud

Abstract excerpt

BACKGROUND: Desbuquois dysplasia type 2 (DBQD2) is an infrequent dysplasia with a wide range of symptoms, including facial deformities, growth retardation and short long bones. It is an autosomal recessive disorder caused by mutations in the XYLT1 gene that encodes xylosyltransferase-1. CASE PRESENTATION: We studied an aborted fetus from Iranian non-consanguineous parents who was therapeutically aborted at 19...

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Identifiers

PMID: 35081921
DOI: 10.1186/s12887-022-03132-5
PMCID: PMC8790879

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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