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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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
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Original Articles
Accesso online: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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