The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiop...
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
About this item
Full title
Author / Creator
Pinard, Amélie , Guey, Stéphanie , Guo, Dongchuan , Cecchi, Alana C. , Kharas, Natasha , Wallace, Stephanie , Regalado, Ellen S. , Hostetler, Ellen M. , Sharrief, Anjail Z. , Bergametti, Françoise , Kossorotoff, Manoelle , Hervé, Dominique , Kraemer, Markus , Bamshad, Michael J. , Nickerson, Deborah A. , Smith, Edward R. , Tournier-Lasserve, Elisabeth and Milewicz, Dianna M.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger.
Methods
Exome sequencing from 39 trios were analyzed.
R...
Alternative Titles
Full title
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
Authors, Artists and Contributors
Author / Creator
Guey, Stéphanie
Guo, Dongchuan
Cecchi, Alana C.
Kharas, Natasha
Wallace, Stephanie
Regalado, Ellen S.
Hostetler, Ellen M.
Sharrief, Anjail Z.
Bergametti, Françoise
Kossorotoff, Manoelle
Hervé, Dominique
Kraemer, Markus
Bamshad, Michael J.
Nickerson, Deborah A.
Smith, Edward R.
Tournier-Lasserve, Elisabeth
Milewicz, Dianna M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7673309
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7673309
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0639-2
