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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Publicado no:Nat Commun
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha: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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