Ontology highlight
ABSTRACT:
SUBMITTER: Cartault F
PROVIDER: S-EPMC4266744 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Cartault François F Munier Patrick P Jacquemont Marie-Line ML Vellayoudom Jeannine J Doray Bérénice B Payet Christine C Randrianaivo Hanitra H Laville Jean-Marc JM Munnich Arnold A Cormier-Daire Valérie V
European journal of human genetics : EJHG 20140423 1
First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, 'Larsen of Reunion Island syndrome' is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spondyloepiphyseal dysplasia with dislocations ascribed to CANT1, FLNB and CHST3 mutations, respectively. We collected the samples of 22 LRS cases. After exclusion of CANT1, FLNB and CHST3 genes, an exome ...[more]