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

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...

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Detalles Bibliográficos
Autores principales: Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor, Nader, Sean, Shah, Hitesh, Wickert, Julia, Kutsche, Kerstin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822278/
https://www.ncbi.nlm.nih.gov/pubmed/27048506
http://dx.doi.org/10.1186/s12881-016-0290-6

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