SPECC1L regulates palate development downstream of IRF6

SPECC1L mutations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P). These mutations cluster in the second coiled-coil and calponin homology domains of SPECC1L and severely affect the ability of SPECC1L to associate with microtubul...

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Pubblicato in:Hum Mol Genet
Autori principali: Hall, Everett G, Wenger, Luke W, Wilson, Nathan R, Undurty-Akella, Sraavya S, Standley, Jennifer, Augustine-Akpan, Eno-Abasi, Kousa, Youssef A, Acevedo, Diana S, Goering, Jeremy P, Pitstick, Lenore, Natsume, Nagato, Paroya, Shahnawaz M, Busch, Tamara D, Ito, Masaaki, Mori, Akihiro, Imura, Hideto, Schultz-Rogers, Laura E, Klee, Eric W, Babovic-Vuksanovic, Dusica, Kroc, Sarah A, Adeyemo, Wasiu L, Eshete, Mekonen A, Bjork, Bryan C, Suzuki, Satoshi, Murray, Jeffrey C, Schutte, Brian C, Butali, Azeez, Saadi, Irfan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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General Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7104672/
https://ncbi.nlm.nih.gov/pubmed/31943082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa002
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