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

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.

American journal of medical genetics. Part A - 1 Oct 2015

Connor Cody J, Shchelochkov Oleg A, Ciliberto Heather

Abstract excerpt

Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked syndrome classically characterized by distal limb anomalies, pigmented skin defects of the face, and recurrent digital fibromas. X-inactivation plays a major role in determining the range of phenotypic expression. Thus, patients can demonstrate a wide spectrum of disease severity, making accurate diagnosis more challenging. Recent...

Read the complete abstract on PubMed

Topics

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

Share to Filamins
Share to Fingers
Share to Karyotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Limb Deformities, Congenital

Share to Osteochondrodysplasias

Share to Pigmentation Disorders

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 26059211
DOI: 10.1002/ajmg.a.37176

Genes

FLNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.PMID 26059211Read ↗

Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review.Semantic proximity Read ↗

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.Semantic proximity Read ↗

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.Semantic proximity Read ↗

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.Semantic proximity Read ↗

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Semantic proximity Read ↗

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.Semantic proximity Read ↗

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.Semantic proximity Read ↗

GNAS-associated disorders of cutaneous ossification: two different clinical presentations.Semantic proximity Read ↗

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.Semantic proximity Read ↗

Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatmentSemantic proximity Read ↗

Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report.Semantic proximity Read ↗

Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl.Semantic proximity Read ↗

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