The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotyp...
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
About this item
Full title
Author / Creator
Weiss, Karin , Lazar, Hayley P. , Kurolap, Alina , Martinez, Ariel F. , Paperna, Tamar , Cohen, Lior , Smeland, Marie F. , Whalen, Sandra , Heide, Solveig , Keren, Boris , Terhal, Pauline , Irving, Melita , Takaku, Motoki , Roberts, John D. , Petrovich, Robert M. , Schrier Vergano, Samantha A. , Kenney, Amy , Hove, Hanne , DeChene, Elizabeth , Quinonez, Shane C. , Colin, Estelle , Ziegler, Alban , Rumple, Melissa , Jain, Mahim , Monteil, Danielle , Roeder, Elizabeth R. , Nugent, Kimberly , van Haeringen, Arie , Gambello, Michael , Santani, Avni , Medne, Līvija , Krock, Bryan , Skraban, Cara M. , Zackai, Elaine H. , Dubbs, Holly A. , Smol, Thomas , Ghoumid, Jamal , Parker, Michael J. , Wright, Michael , Turnpenny, Peter , Clayton-Smith, Jill , Metcalfe, Kay , Kurumizaka, Hitoshi , Gelb, Bruce D. , Baris Feldman, Hagit , Campeau, Philippe M. , Muenke, Maximilian , Wade, Paul A. and Lachlan, Katherine
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
Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in
CHD4
. In this study, we investigated the clinical spectrum of the disorder, genotype–phenotype correlations, and the effect of different missense variants on CHD4 function.
Methods
We collected...
Alternative Titles
Full title
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
Authors, Artists and Contributors
Author / Creator
Lazar, Hayley P.
Kurolap, Alina
Martinez, Ariel F.
Paperna, Tamar
Cohen, Lior
Smeland, Marie F.
Whalen, Sandra
Heide, Solveig
Keren, Boris
Terhal, Pauline
Irving, Melita
Takaku, Motoki
Roberts, John D.
Petrovich, Robert M.
Schrier Vergano, Samantha A.
Kenney, Amy
Hove, Hanne
DeChene, Elizabeth
Quinonez, Shane C.
Colin, Estelle
Ziegler, Alban
Rumple, Melissa
Jain, Mahim
Monteil, Danielle
Roeder, Elizabeth R.
Nugent, Kimberly
van Haeringen, Arie
Gambello, Michael
Santani, Avni
Medne, Līvija
Krock, Bryan
Skraban, Cara M.
Zackai, Elaine H.
Dubbs, Holly A.
Smol, Thomas
Ghoumid, Jamal
Parker, Michael J.
Wright, Michael
Turnpenny, Peter
Clayton-Smith, Jill
Metcalfe, Kay
Kurumizaka, Hitoshi
Gelb, Bruce D.
Baris Feldman, Hagit
Campeau, Philippe M.
Muenke, Maximilian
Wade, Paul A.
Lachlan, Katherine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8900827
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8900827
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0612-0
