Bruck Syndrome 2 Variant Lacking Congenital Contractures And Involving A Novel Compound Heterozygous PLOD2 Mutation

Bruck syndrome (BRKS) is the rare disorder that features congenital joint contractures often with pterygia and subsequent fractures, early on called osteogenesis imperfecta (OI) type XI (OMIM # 610968). Its two forms, BRKS1 (OMIM # 259450) and BRKS2 (OMIM # 609220), reflect autosomal recessive (AR)...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Bone
Main Authors: Mumm, Steven, Gottesman, Gary S., Wenkert, Deborah, Campeau, Philippe M., Nenninger, Angela, Huskey, Margaret, Bijanki, Vinieth N., Veis, Deborah J., Barnes, Aileen M., Marini, Joan C., Stolina, Marina, Zhang, Fan, McAlister, William H., Whyte, Michael P.
Formato: Artigo
Idioma:Inglês
Publicado: 2019
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6945817/
https://ncbi.nlm.nih.gov/pubmed/31472299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2019.115047
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares