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

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.

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

Bertola Debora, Passos-Bueno Maria Rita, Pereira Alexandre, Kim Chong, Morgan Tim, Robertson Stephen P

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Filamins
Share to Genetic Association Studies
Share to Osteochondrodysplasias

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Share to Radiography

Share to Recurrence

Share to Sequence Analysis, DNA

Share to Siblings

Source

Identifiers

PMID: 25820619
DOI: 10.1002/ajmg.a.36981

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.PMID 25820619Read ↗

A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.Semantic proximity Read ↗

[Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case].Semantic proximity Read ↗

Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.Semantic proximity Read ↗

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.Semantic proximity Read ↗

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.Semantic proximity Read ↗

The phenotype of DFNA13/COL11A2.Semantic proximity Read ↗

Mutations affecting multiple functional domains of FGFR3 cause different skeletal dysplasias: a personal retrospective in honor of John Wasmuth.Semantic proximity Read ↗

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.Semantic proximity Read ↗

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

Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1.Semantic proximity Read ↗

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotypeSemantic proximity Read ↗

Fronto-facio-nasal dysplasia in two sisters with additional findings.Semantic proximity Read ↗

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