Condition: FRONTOMETAPHYSEAL DYSPLASIA 1


rs137853312 in FLNA gene and FRONTOMETAPHYSEAL DYSPLASIA 1 PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

PMID 16596676 2006 In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 16596676 2006 We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1.

PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.