Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
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Author / Creator
Paolacci, Stefano , Li, Yun , Agolini, Emanuele , Bellacchio, Emanuele , Arboleda-Bustos, Carlos E , Carrero, Dido , Bertola, Debora , Al-Gazali, Lihadh , Alders, Mariel , Altmüller, Janine , Arboleda, Gonzalo , Beleggia, Filippo , Bruselles, Alessandro , Ciolfi, Andrea , Gillessen-Kaesbach, Gabriele , Krieg, Thomas , Mohammed, Shehla , Müller, Christian , Novelli, Antonio , Ortega, Jenny , Sandoval, Adrian , Velasco, Gloria , Yigit, Gökhan , Arboleda, Humberto , Lopez-Otin, Carlos , Wollnik, Bernd , Tartaglia, Marco and Hennekam, Raoul C
Publisher
England: BMJ Publishing Group LTD
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Language
English
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Publisher
England: BMJ Publishing Group LTD
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Scope and Contents
Contents
BackgroundWiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face. We aimed to understand its molecular cause.MethodsWe performed exome sequencing in two famili...
Alternative Titles
Full title
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
Authors, Artists and Contributors
Author / Creator
Li, Yun
Agolini, Emanuele
Bellacchio, Emanuele
Arboleda-Bustos, Carlos E
Carrero, Dido
Bertola, Debora
Al-Gazali, Lihadh
Alders, Mariel
Altmüller, Janine
Arboleda, Gonzalo
Beleggia, Filippo
Bruselles, Alessandro
Ciolfi, Andrea
Gillessen-Kaesbach, Gabriele
Krieg, Thomas
Mohammed, Shehla
Müller, Christian
Novelli, Antonio
Ortega, Jenny
Sandoval, Adrian
Velasco, Gloria
Yigit, Gökhan
Arboleda, Humberto
Lopez-Otin, Carlos
Wollnik, Bernd
Tartaglia, Marco
Hennekam, Raoul C
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2120755832
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2120755832
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2018-105528
