Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

TitleBiallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Publication TypeJournal Article
Year of Publication2020
AuthorsSaad, 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, MAHS, Lupski, JR
Corporate AuthorsBaylor-Hopkins Center for Mendelian Genomics
JournalBrain
Volume143
Issue10
Paginatione83
Date Published2020 10 01
ISSN1460-2156
KeywordsAtrophy, Cerebellar Diseases, Humans, Intellectual Disability, Sequence Deletion
DOI10.1093/brain/awaa256
Alternate JournalBrain
PubMed ID33011761
PubMed Central IDPMC7586085
Grant ListT32 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