Associated Papers
FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.
Ordaz-Robles T et al.
American Journal of Medical Genetics. Part A, 2026
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
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
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