A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4

Treacher Collins syndrome (TCS) is a heterogenous malformation syndrome characterized by a distinct facial appearance including downslanting palpebral fissures, malar hypoplasia, conductive hearing loss, and mandibular hypoplasia. Recently, a new causative gene, POLR1B, encoding DNA-directed RNA pol...

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Podrobná bibliografie
Vydáno v:Mol Syndromol
Hlavní autoři: Enomoto, Yumi, Tsurusaki, Yoshinori, Tominaga, Makiko, Kobayashi, Shinji, Inoue, Maki, Fujita, Kazutoshi, Kumaki, Tatsuro, Murakami, Hiroaki, Kurosawa, Kenji
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2021
Témata:
Novel Insights from Clinical Practice
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8114036/
https://ncbi.nlm.nih.gov/pubmed/34012383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000513224
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