Title | Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. |
Publication Type | Journal Article |
Year of Publication | 2020 |
Authors | Saad, AK, Marafi, D, Mitani, T, Jolly, A, Du, H, Elbendary, HM, Jhangiani, SN, Akdemir, ZC, Gibbs, RA, Hunter, JV, Carvalho, CMBC, Pehlivan, D, Posey, JE, Zaki, MS, Lupski, JR |
Corporate Authors | Baylor-Hopkins Center for Mendelian Genomics |
Journal | Brain |
Volume | 143 |
Issue | 10 |
Pagination | e83 |
Date Published | 2020 Oct 01 |
ISSN | 1460-2156 |
Keywords | Atrophy, Cerebellar Diseases, Humans, Intellectual Disability, Sequence Deletion |
DOI | 10.1093/brain/awaa256 |
Alternate Journal | Brain |
PubMed ID | 33011761 |
PubMed Central ID | PMC7586085 |
Grant List | T32 GM007526 / GM / NIGMS NIH HHS / United States R35 NS105078 / NS / NINDS NIH HHS / United States K08 HG008986 / HG / NHGRI NIH HHS / United States UM1 HG006542 / HG / NHGRI NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States |
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
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