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Article

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

American journal of medical genetics. Part A - 15 Jan 2005

Giuliano Fabienne, Collignon Patrick, Paquis-Flucklinger Véronique, Bardot Jacques, Philip Nicole

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Source

Identifiers

PMID: 15523633
DOI: 10.1002/ajmg.a.30396

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.PMID 15523633Read ↗

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

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

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

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

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

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

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.Semantic proximity Read ↗

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.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 ↗

A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.Semantic 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 ↗

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