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)...

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Vydáno v:Bone
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup: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
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