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

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 s...

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Detalles Bibliográficos
Publicado en:BMC Med Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2018
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6119281/
https://ncbi.nlm.nih.gov/pubmed/30170566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0671-0
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