Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is gain-of-function mutations in FLNA, although how these mutations result in a hyperostotic phenotype remains unknown. Approximately one half of...

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मुख्य लेखकों: Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.
स्वरूप: मूलपाठ
भाषा:अंग्रेज़ी
प्रकाशित: Elsevier 2016
विषय:
Article
ऑनलाइन पहुंच:https://pmc.ncbi.nlm.nih.gov/articles/PMC4974064/
https://pubmed.ncbi.nlm.nih.gov/27426733
http://dx.doi.org/10.1016/j.ajhg.2016.05.024
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इंटरनेट

https://pmc.ncbi.nlm.nih.gov/articles/PMC4974064/
https://pubmed.ncbi.nlm.nih.gov/27426733
http://dx.doi.org/10.1016/j.ajhg.2016.05.024

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