Associated Papers
Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.
Liu J et al.
Frontiers in Genetics, 2025
Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.
Lu YL et al.
Dna and Cell Biology, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.
Gangadaran P et al.
American Journal of Medical Genetics. Part A, 2021
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
Dissanayake R et al.
American Journal of Medical Genetics. Part A, 2021
Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1.
Kim J et al.
Frontiers in Pediatrics, 2021
Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1.
Kim J et al.
Frontiers in Pediatrics, 2021
Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.
Xiao F et al.
Translational Pediatrics, 2020
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.
Spencer C et al.
American Journal of Medical Genetics. Part A, 2018
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S et al.
Journal of Human Genetics, 2016
Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens.
Page RC et al.
Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2011
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson SP et al.
American Journal of Medical Genetics. Part A, 2006
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.
Zenker M et al.
American Journal of Medical Genetics. Part A, 2006
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.
Giuliano F et al.
American Journal of Medical Genetics. Part A, 2005