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

Authors :: Saad, Ahmed K
Marafi, Dana
Mitani, Tadahiro
Jolly, Angad
Du, Haowei
Elbendary, Hasnaa M
Jhangiani, Shalini N
Akdemir, Zeynep C
Genomics, Baylor-Hopkins Center for Mendelian
Gibbs, Richard A
Hunter, Jill V
Carvalho, Claudia M B C
Pehlivan, Davut
Posey, Jennifer E
Zaki, Maha S
Lupski, James R
Baylor-Hopkins Center for Mendelian Genomics
Source :: Brain: A Journal of Neurology; Oct2020, Vol. 143 Issue 10, pe83-e83, 1p
Publication Year :: 2020

Subjects :: DEVELOPMENTAL delay
ATROPHY
MEDICAL genetics
MOLECULAR genetics
GENOMICS
RESEARCH
GENETIC mutation
RESEARCH methodology
EVALUATION research
MEDICAL cooperation
COMPARATIVE studies
CEREBELLUM diseases
RESEARCH funding

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