Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping...

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Publié dans:Nat Commun
Auteurs principaux: Lee, Yu-Ri, Khan, Kamal, Armfield-Uhas, Kim, Srikanth, Sujata, Thompson, Nicola A., Pardo, Mercedes, Yu, Lu, Norris, Joy W., Peng, Yunhui, Gripp, Karen W., Aleck, Kirk A., Li, Chumei, Spence, Ed, Choi, Tae-Ik, Kwon, Soo Jeong, Park, Hee-Moon, Yu, Daseuli, Heo, Won Do, Mooney, Marie R., Baig, Shahid M., Wentzensen, Ingrid M., Telegrafi, Aida, McWalter, Kirsty, Moreland, Trevor, Roadhouse, Chelsea, Ramsey, Keri, Lyons, Michael J., Skinner, Cindy, Alexov, Emil, Katsanis, Nicholas, Stevenson, Roger E., Choudhary, Jyoti S., Adams, David J., Kim, Cheol-Hee, Davis, Erica E., Schwartz, Charles E.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7378245/
https://ncbi.nlm.nih.gov/pubmed/32703943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-17452-6
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