シレンス症候群
English Journal
- A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family.
- Pang X1, Wang Z2, Chai Y2, Chen H2, Li L2, Sun L2, Jia H2, Wu H2, Yang T3.
- The Annals of otology, rhinology, and laryngology.Ann Otol Rhinol Laryngol.2015 Sep;124(9):745-51. doi: 10.1177/0003489415582257. Epub 2015 Apr 17.
- OBJECTIVES: NOG is an antagonist to bone morphogenetic proteins and plays an important role in proper bone and joint development. Dominant mutations in NOG may lead to a series of symphalangism spectrum disorders. In this study, we aimed to identify the genetic cause and the pathogenic mechanism of
- PMID 25888563
Related Links
- Sillence syndrome Synonyms Brachydactyly-distal symphalangism syndrome Modes of inheritance Autosomal dominant inheritance (OMIM, Orphanet) Autosomal dominant inheritance (HPO) Related conditions Help C Clinical test ...
- Summary Disease definition Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal ...
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