Article
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
Clinical dysmorphology - 1 Jan 2007
Albano Lilian M J, Bertola Débora R, Barba Mário F, Valente Marcelo, Robertson Stephen P, Kim Chong A
Abstract excerpt
Several disorders characterized primarily by anomalies of the skeleton have recently been shown to be caused by mutations in the X-linked gene, FLNA. One of these conditions, the Melnick-Needles syndrome exhibits a phenotype that shares overlap with that of serpentine fibula-polycystic kidney syndrome and the autosomal dominant condition, Hajdu-Cheney syndrome. Here, we describe three individuals with these...
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