De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetyla...
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
About this item
Full title
Author / Creator
Basilicata, M. Felicia , Bruel, Ange-Line , Semplicio, Giuseppe , Valsecchi, Claudia Isabelle Keller , Aktaş, Tuğçe , Duffourd, Yannis , Rumpf, Tobias , Morton, Jenny , Bache, Iben , Szymanski, Witold G. , Gilissen, Christian , Vanakker, Olivier , Õunap, Katrin , Mittler, Gerhard , van der Burgt, Ineke , El Chehadeh, Salima , Cho, Megan T. , Pfundt, Rolph , Tan, Tiong Yang , Kirchhoff, Maria , Menten, Björn , Vergult, Sarah , Lindstrom, Kristin , Reis, André , Johnson, Diana S. , Fryer, Alan , McKay, Victoria , Fisher, Richard B. , Thauvin-Robinet, Christel , Francis, David , Roscioli, Tony , Pajusalu, Sander , Radtke, Kelly , Ganesh, Jaya , Brunner, Han G. , Wilson, Meredith , Faivre, Laurence , Kalscheuer, Vera M. , Thevenon, Julien , Akhtar, Asifa and DDD Study
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
The etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and function, where misregulation may lead to developmental defects. Here, we report pathogenic variations in MSL3, which encodes a member of the chromatin-associated male-specific lethal (MSL) compl...
Alternative Titles
Full title
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
Authors, Artists and Contributors
Author / Creator
Bruel, Ange-Line
Semplicio, Giuseppe
Valsecchi, Claudia Isabelle Keller
Aktaş, Tuğçe
Duffourd, Yannis
Rumpf, Tobias
Morton, Jenny
Bache, Iben
Szymanski, Witold G.
Gilissen, Christian
Vanakker, Olivier
Õunap, Katrin
Mittler, Gerhard
van der Burgt, Ineke
El Chehadeh, Salima
Cho, Megan T.
Pfundt, Rolph
Tan, Tiong Yang
Kirchhoff, Maria
Menten, Björn
Vergult, Sarah
Lindstrom, Kristin
Reis, André
Johnson, Diana S.
Fryer, Alan
McKay, Victoria
Fisher, Richard B.
Thauvin-Robinet, Christel
Francis, David
Roscioli, Tony
Pajusalu, Sander
Radtke, Kelly
Ganesh, Jaya
Brunner, Han G.
Wilson, Meredith
Faivre, Laurence
Kalscheuer, Vera M.
Thevenon, Julien
Akhtar, Asifa
DDD Study
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7398719
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7398719
Other Identifiers
ISSN
1061-4036,1546-1718
E-ISSN
1546-1718
DOI
10.1038/s41588-018-0220-y
