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

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.

Genes - 22 Oct 2024

Campos Talyta, Uchoa Elza, Santos Victor, Zatarin Raffael, Benício Rosenelle, Gomes Clayson, da Cruz Aparecido

Abstract excerpt

Camurati-Engelmann Disease (CED), or Progressive Diaphyseal Dysplasia, is a rare autosomal dominant disorder caused by heterozygous mutations in the TGFB1 Gene, essential for bone regeneration. This study examines the genotype-phenotype relationship in a family diagnosed with CED, specifically focusing on a missense variant (c.653G>A, p.Arg218Cys). The family comprised a mother and her two children, all of whom...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Mutation, Missense

Share to Pedigree

Share to Phenotype

Share to Transforming Growth Factor beta1

Source

Open in PubMed Open full text

Identifiers

PMID: 39596554
DOI: 10.3390/genes15111354
PMCID: PMC11593567

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

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.PMID 39596554Read ↗

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.Semantic proximity Read ↗

Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.Semantic proximity Read ↗

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.Semantic proximity Read ↗

Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.Semantic proximity Read ↗

Transforming growth factor-β1 gene mutations and phenotypes in pediatric patients with Camurati‑Engelmann disease.Semantic proximity Read ↗

[A pedigree study of Loeys-Dietz syndrome type 4 with skeletal deformity related to a novel TGFβ2 mutation].Semantic proximity Read ↗

Camurati-Engelmann disease--a rare cause of bone pain.Semantic proximity Read ↗

Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.Semantic proximity Read ↗

A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease.Semantic proximity Read ↗

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.Semantic proximity Read ↗

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.Semantic proximity Read ↗

Camurati-engelmann disease: Unique variant featuring a novel mutation in <i>TGFβ1</i> encoding transforming growth factor beta 1 and a missense change in <i>TNFSF11</i> encoding RANK ligandSemantic proximity Read ↗

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