Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients

BACKGROUND: Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features presenting as hypoplasia of the zygomatic com...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Pan, Zhaoyu, Xu, Hongen, Chen, Bei, Tian, Yongan, Zhang, Linlin, Zhang, Sen, Liu, Danhua, Liu, Huanfei, Li, Ruijun, Hu, Xinxin, Guan, Jingyuan, Tang, Wenxue, Lu, Wei
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077114/
https://ncbi.nlm.nih.gov/pubmed/33332773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1573
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