Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior...
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
About this item
Full title
Author / Creator
Fountain, Michael D. , Oleson, David S. , Rech, Megan E. , Segebrecht, Lara , Hunter, Jill V. , McCarthy, John M. , Lupo, Philip J. , Holtgrewe, Manuel , Moran, Rocio , Rosenfeld, Jill A. , Isidor, Bertrand , Le Caignec, Cédric , Saenz, Margarita S. , Pedersen, Robert C. , Morgan, Thomas M. , Pfotenhauer, Jean P. , Xia, Fan , Bi, Weimin , Kang, Sung-Hae L. , Patel, Ankita , Krantz, Ian D. , Raible, Sarah E. , Smith, Wendy , Cristian, Ingrid , Torti, Erin , Juusola, Jane , Millan, Francisca , Wentzensen, Ingrid M. , Person, Richard E. , Küry, Sébastien , Bézieau, Stéphane , Uguen, Kévin , Férec, Claude , Munnich, Arnold , van Haelst, Mieke , Lichtenbelt, Klaske D. , van Gassen, Koen , Hagelstrom, Tanner , Chawla, Aditi , Perry, Denise L. , Taft, Ryan J. , Jones, Marilyn , Masser-Frye, Diane , Dyment, David , Venkateswaran, Sunita , Li, Chumei , Escobar, Luis F. , Horn, Denise , Spillmann, Rebecca C. , Peña, Loren , Wierzba, Jolanta , Strom, Tim M. , Parenti, Ilaria , Kaiser, Frank J. , Ehmke, Nadja and Schaaf, Christian P.
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
Haploinsufficiency of
USP7
, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MA...
Alternative Titles
Full title
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Authors, Artists and Contributors
Author / Creator
Oleson, David S.
Rech, Megan E.
Segebrecht, Lara
Hunter, Jill V.
McCarthy, John M.
Lupo, Philip J.
Holtgrewe, Manuel
Moran, Rocio
Rosenfeld, Jill A.
Isidor, Bertrand
Le Caignec, Cédric
Saenz, Margarita S.
Pedersen, Robert C.
Morgan, Thomas M.
Pfotenhauer, Jean P.
Xia, Fan
Bi, Weimin
Kang, Sung-Hae L.
Patel, Ankita
Krantz, Ian D.
Raible, Sarah E.
Smith, Wendy
Cristian, Ingrid
Torti, Erin
Juusola, Jane
Millan, Francisca
Wentzensen, Ingrid M.
Person, Richard E.
Küry, Sébastien
Bézieau, Stéphane
Uguen, Kévin
Férec, Claude
Munnich, Arnold
van Haelst, Mieke
Lichtenbelt, Klaske D.
van Gassen, Koen
Hagelstrom, Tanner
Chawla, Aditi
Perry, Denise L.
Taft, Ryan J.
Jones, Marilyn
Masser-Frye, Diane
Dyment, David
Venkateswaran, Sunita
Li, Chumei
Escobar, Luis F.
Horn, Denise
Spillmann, Rebecca C.
Peña, Loren
Wierzba, Jolanta
Strom, Tim M.
Parenti, Ilaria
Kaiser, Frank J.
Ehmke, Nadja
Schaaf, Christian P.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752677
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752677
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0433-1
