Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

Abstract 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...

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Bibliographic Details
Main Authors: N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen, B. Paus
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Medical Genetics
Subjects:
Larsen syndrome
Stickler syndrome
Loeys-Dietz syndrome
High throughput sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-018-0671-0

Internet

http://link.springer.com/article/10.1186/s12881-018-0671-0

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