Hunter Jesse M, Kiefer Jeff, Balak Christopher D, Jooma Sonya, Ahearn Mary Ellen, Hall Judith G, Baumbach-Reardon Lisa
Integrated Functional Cancer Genomics, Translational Genomics Research Institute, Phoenix, Arizona.
Am J Med Genet A. 2015 May;167A(5):931-73. doi: 10.1002/ajmg.a.36934. Epub 2015 Mar 19.
The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.
以下是对50种与关节挛缩症或其他类型早期挛缩相关的X连锁综合征和病症的综述。这些病症分为以下几类：具有已知致病基因突变的病症、明确为X连锁但致病基因尚未确定的病症，以及根据家族史怀疑为X连锁的病症。已确定了几种已知疾病基因的重要本体途径，并结合临床特征进行了讨论。文中还列出了表格，有助于识别每种病症的显著临床特征。
