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...

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Detalles Bibliográficos
Autores principales: Wang, Chen, Xu, Yufei, Qing, Yanrong, Yao, Ruen, Li, Niu, Wang, Xiumin, Yu, Tingting, Wang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
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

Internet

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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