Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restric...
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
About this item
Full title
Author / Creator
Lindgren, Amelia M. , Hoyos, Tatiana , Talkowski, Michael E. , Hanscom, Carrie , Blumenthal, Ian , Chiang, Colby , Ernst, Carl , Pereira, Shahrin , Ordulu, Zehra , Clericuzio, Carol , Drautz, Joanne M. , Rosenfeld, Jill A. , Shaffer, Lisa G. , Velsher, Lea , Pynn, Tania , Vermeesch, Joris , Harris, David J. , Gusella, James F. , Liao, Eric C. and Morton, Cynthia C.
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence in situ hybridization and whole-genome sequencing demonstrated that...
Alternative Titles
Full title
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
Authors, Artists and Contributors
Author / Creator
Hoyos, Tatiana
Talkowski, Michael E.
Hanscom, Carrie
Blumenthal, Ian
Chiang, Colby
Ernst, Carl
Pereira, Shahrin
Ordulu, Zehra
Clericuzio, Carol
Drautz, Joanne M.
Rosenfeld, Jill A.
Shaffer, Lisa G.
Velsher, Lea
Pynn, Tania
Vermeesch, Joris
Harris, David J.
Gusella, James F.
Liao, Eric C.
Morton, Cynthia C.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3627823
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3627823
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-013-1263-x
