Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

27 Nov 2017

Abstract excerpt

Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dysplasias also include syndromes such as kyphomelic dysplasia...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone and Dental Protein Studies
Share to Connective tissue disorders research
Share to Ubiquitin and proteasome pathways

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29178448
DOI: 10.1002/jbmr.3348

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2PMID 29178448Read ↗

Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series.Semantic proximity Read ↗

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.Semantic proximity Read ↗

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.Semantic proximity Read ↗

Clinical and genetic landscape of Bruck syndrome in the Indian populationSemantic proximity Read ↗

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.Semantic proximity Read ↗

Update on the Genetics of Osteogenesis Imperfecta.Semantic proximity Read ↗

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.Semantic proximity Read ↗

Advances in Skeletal Dysplasia Genetics.Semantic proximity Read ↗

Expanding the phenome and variome of skeletal dysplasia.Semantic proximity Read ↗

What is new in genetics and osteogenesis imperfecta classification?Semantic proximity Read ↗

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.Semantic proximity Read ↗

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.