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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發表在: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.
格式: Artigo
語言:Inglês
出版: 2019
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Article
在線閱讀: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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