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Article

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

American journal of medical genetics. Part A - 15 May 2006

Zenker Martin, Nährlich Lutz, Sticht Heinrich, Reis André, Horn Denise

Abstract excerpt

Frontometaphyseal dysplasia (FMD) belongs to a group of overlapping skeletal dysplasias, the common molecular basis of which are mutations of FLNA, the gene encoding filamin A. The nature of the mutation has been considered the major determinant of the phenotype within this group that comprises the otopalatodigital syndromes (OPD1, OPD2) and Melnick-Needles syndrome besides FMD. However, to date the molecular...

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Identifiers

PMID: 16596676
DOI: 10.1002/ajmg.a.31213

Genes

FLNA

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.PMID 16596676Read ↗

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

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

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.Semantic proximity Read ↗

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

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

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.Semantic proximity Read ↗

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

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

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

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