Article
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
BMC medical genetics - 31 Aug 2018
Riise N, Lindberg B R, Kulseth M A, Fredwall S O, Lundby R, Estensen M-E, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B
Abstract excerpt
BACKGROUND: Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections...
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