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Article

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Nov 2016

Taylan F, Mäkitie O

Abstract excerpt

In recent years, massively parallel sequencing technologies have helped us to identify novel disease genes and solve the mysteries behind rare diseases. Today, we know that some diseases with many overlapping and distinct clinical features, as presented in this review, can be caused by mutations in genes that encode enzymes playing crucial roles at different steps of the exact same pathway. In this review, we...

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Source

Identifiers

PMID: 27871115
DOI: 10.1055/s-0042-118706

Genes

XYLT2
XYLT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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