Skip to Main Content
CKG
Home
Home
Home
TKG
Paper Details
Breadcrumb
Paper Details
Paper Title
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
PubMed
Paper Journal Title
Nat Genet
Paper Citation Count
6
Paper Publication Year
2023
Bio Mention
FBMN, FBMNs, GATA2, Gata2, Gata3, HCFP1, Hereditary congenital facial paresis type 1, IEEs, NR2F1, SNVs, absent or limited facial movement, autosomal dominant disorder, chromosome 3q21-q22, enhancer reporter, enhancers, facial branchial motor, facial branchial motor neuron, humanized, inner-ear efferent neuron, mouse, neuron-specific GATA2 regulatory region, rare mendelian disease, rhombomere, rhombomere 4 motor neurons, silencer, single-nucleotide variants
Mesh Descriptor
Go
Actions
Author Name
Affiliation
Bryn D Webb
University of Wisconsin School of Medicine and Public Health
Bryn D Webb
Icahn School of Medicine at Mount Sinai
Bryn D Webb
University of Wisconsin School of Medicine and Public Health
Bryn D Webb
Icahn School of Medicine at Mount Sinai
Monkol Lek
Yale University School of Medicine
Christopher K Zalewski
National Institute on Deafness and Other Communication Disorders
Kelly A King
National Institute on Deafness and Other Communication Disorders
Carmen C Brewer
National Institute on Deafness and Other Communication Disorders
Flavia M Facio
Center for Precision Health Research, National Human Genome Research Institute
Flavia M Facio
Invitae Corporation
Flavia M Facio
Center for Precision Health Research, National Human Genome Research Institute
Flavia M Facio
Invitae Corporation
Narisu Narisu
Center for Precision Health Research, National Human Genome Research Institute
Lori L Bonnycastle
Center for Precision Health Research, National Human Genome Research Institute
Amy J Swift
Center for Precision Health Research, National Human Genome Research Institute
Peter S Chines
Center for Precision Health Research, National Human Genome Research Institute
Rose-Mary Boustany
American University of Beirut Medical Center
David A Mackey
Lions Eye Institute, University of Western Australia
Stuart H Orkin
Howard Hughes Medical Institute
Stuart H Orkin
Stephen C J Parker
University of Michigan ann arbor
Stephen C J Parker
University of Michigan ann arbor
Francis S Collins
Center for Precision Health Research, National Human Genome Research Institute
Francis S Collins
Center for Precision Health Research, National Human Genome Research Institute
Len A Pennacchio
Lawrence Berkeley National Laboratory
Len A Pennacchio
Lawrence Berkeley National Laboratory
1 - 26
Column Actions
Search
Datasets