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Article

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Journal of medical genetics - 1 Jul 2020

Byrne Alicia B, Mizumoto Shuji, Arts Peer, Yap Patrick, Feng Jinghua, Schreiber Andreas W, Babic Milena, King-Smith Sarah L, Barnett Christopher P, Moore Lynette, Sugahara Kazuyuki, Mutlu-Albayrak Hatice, Nishimura Gen, Liebelt Jan E, Yamada Shuhei, Savarirayan Ravi, Scott Hamish S

Abstract excerpt

BACKGROUND: Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a 'dysplasia with multiple joint dislocations'; however, the molecular aetiology of the disorder is currently unknown. METHODS: Whole exome sequencing (WES) was performed on three patients from two unrelated families, clinically diagnosed with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31988067
DOI: 10.1136/jmedgenet-2019-106700
PMCID: PMC7361035

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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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