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TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations
BACKGROUND: Tricho‐rhino‐phalangeal syndrome (TRPS) is a rare autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, a pear‐shaped nose, and cone‐shaped epiphyses. This condition is caused by haploinsuff...
Autores principales: | Wang, Chen, Xu, Yufei, Qing, Yanrong, Yao, Ruen, Li, Niu, Wang, Xiumin, Yu, Tingting, Wang, Jian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549555/ https://www.ncbi.nlm.nih.gov/pubmed/33073934 http://dx.doi.org/10.1002/mgg3.1417 |
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