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Article

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.

Journal of medical genetics - 1 Aug 2023

Tuysuz Beyhan, Uludag Alkaya Dilek, Geyik Filiz, Alaylıoğlu Merve, Kasap Busra, Kurugoğlu Sebuh, Akman Yunus Emre, Vural Mehmet, Bilguvar Kaya

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders characterised by susceptibility to fractures, primarily due to defects in type 1 collagen. The aim of this study is to present a novel OI phenotype and its causative candidate gene. METHODS: Whole-exome sequencing and clinical evaluation were performed in five patients from two unrelated families. PHLDB1 mRNA expression in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36543534
DOI: 10.1136/jmg-2022-108763

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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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