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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

Girisha, Katta Mohan ; Bidchol, Abdul Mueed ; Graul-Neumann, Luitgard ; Gupta, Ashish ; Hehr, Ute ; Lessel, Davor ; Nader, Sean ; Shah, Hitesh ; Wickert, Julia ; Kutsche, Kerstin



Abstract

Background: Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or small in-frame deletions in the FLNB gene. To further characterize the phenotype and the mutation spectrum of this condition, we investigated seven probands, five sporadic individuals and a mother-son-duo with Larsen syndrome. ...

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