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Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome

Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant craniofacial and skeletal dysplasia that is caused by mutations involving the TRPS1 gene. Patients with TRPS have short stature, hip abnormalities, cone-shaped epiphyses and premature closure of growth plates reflecting defects in endo...

詳細記述

保存先:
書誌詳細
主要な著者: Napierala, Dobrawa, Sam, Kathy, Morello, Roy, Zheng, Qiping, Munivez, Elda, Shivdasani, Ramesh A., Lee, Brendan
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2008
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2710999/
https://ncbi.nlm.nih.gov/pubmed/18424451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn125
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