Discover Community Create You

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

Genotype-phenotype study in type V osteogenesis imperfecta.

Clinical dysmorphology - 1 Jul 2013

Balasubramanian Meena, Parker Michael J, Dalton Ann, Giunta Cecilia, Lindert Uschi, Peres Luiz C, Wagner Bart E, Arundel Paul, Offiah Amaka, Bishop Nicholas J

Abstract excerpt

Type V osteogenesis imperfecta (OI) presents with moderate-to-severe skeletal deformity and is characterized by hyperplastic callus formation at fracture sites and calcification of the interosseous membranes of the forearm and lower leg. The facial dysmorphism is not well characterized and has no...

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to Bone and Bones
Share to Calcification, Physiologic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Facies

Share to Membrane Proteins

Share to Osteoblasts

Share to Osteogenesis Imperfecta

Source

Identifiers

PMID: 23612438
DOI: 10.1097/MCD.0b013e32836032f0

Genes

IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23612438-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype study in type V osteogenesis imperfecta.PMID 23612438Read ↗

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 MutationSemantic proximity Read ↗

[Genetic mutation and clinical features of osteogenesis imperfecta type V].Semantic proximity Read ↗

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.Semantic proximity Read ↗

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.Semantic proximity Read ↗

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.Semantic proximity Read ↗

Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.Semantic proximity Read ↗

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.Semantic proximity Read ↗

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.Semantic proximity Read ↗

A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.Semantic proximity Read ↗

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.Semantic proximity Read ↗

Dental and facial characteristics of osteogenesis imperfecta type VSemantic proximity Read ↗

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.Semantic proximity Read ↗

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