PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac,...
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
About this item
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Author / Creator
Low, Karen J , Ansari, Morad , Abou Jamra, Rami , Clarke, Angus , El Chehadeh, Salima , FitzPatrick, David R , Greenslade, Mark , Henderson, Alex , Hurst, Jane , Keller, Kory , Kuentz, Paul , Prescott, Trine , Roessler, Franziska , Selmer, Kaja K , Schneider, Michael C , Stewart, Fiona , Tatton-Brown, Katrina , Thevenon, Julien , Vigeland, Magnus D , Vogt, Julie , Willems, Marjolaine , Zonana, Jonathan , Study, D D D and Smithson, Sarah F
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six pati...
Alternative Titles
Full title
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Authors, Artists and Contributors
Author / Creator
Ansari, Morad
Abou Jamra, Rami
Clarke, Angus
El Chehadeh, Salima
FitzPatrick, David R
Greenslade, Mark
Henderson, Alex
Hurst, Jane
Keller, Kory
Kuentz, Paul
Prescott, Trine
Roessler, Franziska
Selmer, Kaja K
Schneider, Michael C
Stewart, Fiona
Tatton-Brown, Katrina
Thevenon, Julien
Vigeland, Magnus D
Vogt, Julie
Willems, Marjolaine
Zonana, Jonathan
Study, D D D
Smithson, Sarah F
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5392357
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5392357
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2017.27
