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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119281/
https://www.ncbi.nlm.nih.gov/pubmed/30170566
http://dx.doi.org/10.1186/s12881-018-0671-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119281/
https://www.ncbi.nlm.nih.gov/pubmed/30170566
http://dx.doi.org/10.1186/s12881-018-0671-0

Ejemplares similares