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Article

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

BMC medical genetics - 6 Apr 2016

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

Abstract excerpt

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. METHODS: The...

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Identifiers

PMID: 27048506
DOI: 10.1186/s12881-016-0290-6
PMCID: PMC4822278

Genes

FLNB

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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.PMID 27048506Read ↗

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