Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jessica Omark O'Shea"'
Autor:
Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura Cross, Emilia K. Bijlsma, Claudia A.L. Ruivenkamp, Francis H. Sansbury, Jeffrey W. Innis, Jessica Omark O’Shea, Qingchang Meng, Jill A. Rosenfeld, Kirsty McWalter, Michael F. Wangler, James R. Lupski, Jennifer E. Posey, David Murdock, Richard A. Gibbs
Publikováno v:
HGG Advances, Vol 2, Iss 4, Pp 100049- (2021)
Summary: Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AH
Externí odkaz:
https://doaj.org/article/2e89a4ca268f4c13b0e4310f9b45e168
Autor:
Moez Dawood, James R. Lupski, Emilia K. Bijlsma, Michael M. Khayat, Shoudong Li, Jeffrey W. Innis, Jessica Omark O’Shea, Laura A Cross, Richard A. Gibbs, Jennifer Friedman, Francis H. Sansbury, Kirsty McWalter, Adam W. Hansen, Michael F. Wangler, Yunyun Jiang, Jill A. Rosenfeld, Jianhong Hu, David R. Murdock, Claudia A. L. Ruivenkamp, Jennifer E. Posey, He Li, Qingchang Meng, Varuna Chander
Publikováno v:
Human Genetics and Genomics Advances, 2(4). ELSEVIER
HGG Advances, Vol 2, Iss 4, Pp 100049-(2021)
HGG advances
HGG Advances, Vol 2, Iss 4, Pp 100049-(2021)
HGG advances
Summary Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fbd90ee0a13c134052c78fe5df8a3e
http://hdl.handle.net/1887/3564838
http://hdl.handle.net/1887/3564838
