Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disab...
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
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Author / Creator
El Chehadeh, Salima , Kerstjens-Frederikse, Wilhelmina , Thevenon, Julien , Kuentz, Paul , Bruel, Ange-Line , Thauvin-Robinet, Christel , Bensignor, Candace , Dollfus, Hélène , Laugel, Vincent , Rivière, Jean-Baptiste , Duffourd, Yannis , Bonnet, Caroline , Robert, Matthieu , Isaiko, Rodica , Straub, Morgane , Creuzot-Garcher, Catherine , Calvas, Patrick , Chassaing, Nicolas , Loeys, Bart , Reyniers, Edwin , Vandeweyer, Geert , Kooy, Frank , Hančárová, Miroslava , Havlovicová, Marketa , Prchalová, Darina , Sedláček, Zdenek , Gilissen, Christian , Pfundt, Rolph , Wassink-Ruiter, Jolien and Faivre, Laurence
Publisher
Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a c...
Alternative Titles
Full title
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
Authors, Artists and Contributors
Author / Creator
Kerstjens-Frederikse, Wilhelmina
Thevenon, Julien
Kuentz, Paul
Bruel, Ange-Line
Thauvin-Robinet, Christel
Bensignor, Candace
Dollfus, Hélène
Laugel, Vincent
Rivière, Jean-Baptiste
Duffourd, Yannis
Bonnet, Caroline
Robert, Matthieu
Isaiko, Rodica
Straub, Morgane
Creuzot-Garcher, Catherine
Calvas, Patrick
Chassaing, Nicolas
Loeys, Bart
Reyniers, Edwin
Vandeweyer, Geert
Kooy, Frank
Hančárová, Miroslava
Havlovicová, Marketa
Prchalová, Darina
Sedláček, Zdenek
Gilissen, Christian
Pfundt, Rolph
Wassink-Ruiter, Jolien
Faivre, Laurence
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03271113v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03271113v1
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2016.133
