Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13....
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
About this item
Full title
Author / Creator
Juven, Aurélien , Nambot, Sophie , Piton, Amélie , Jean-Marçais, Nolwenn , Masurel, Alice , Callier, Patrick , Marle, Nathalie , Mosca-Boidron, Anne-Laure , Kuentz, Paul , Philippe, Christophe , Chevarin, Martin , Duffourd, Yannis , Gautier, Elodie , Munnich, Arnold , Rio, Marlène , Rondeau, Sophie , El Chehadeh, Salima , Schaefer, Élise , Gérard, Bénédicte , Bouquillon, Sonia , Delorme, Catherine Vincent , Francannet, Christine , Laffargue, Fanny , Gouas, Laetitia , Isidor, Bertrand , Vincent, Marie , Blesson, Sophie , Giuliano, Fabienne , Pichon, Olivier , Le Caignec, Cédric , Journel, Hubert , Perrin-Sabourin, Laurence , Fabre-Teste, Jennifer , Martin, Dominique , Vieville, Gaelle , Dieterich, Klaus , Lacombe, Didier , Denommé-Pichon, Anne-Sophie , Thauvin-Robinet, Christel and Faivre, Laurence
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, and contractures. In 2014, ZBTB20 variants were identified as responsible for this syndrome. Indeed, ZBTB20 plays an important...
Alternative Titles
Full title
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Authors, Artists and Contributors
Author / Creator
Nambot, Sophie
Piton, Amélie
Jean-Marçais, Nolwenn
Masurel, Alice
Callier, Patrick
Marle, Nathalie
Mosca-Boidron, Anne-Laure
Kuentz, Paul
Philippe, Christophe
Chevarin, Martin
Duffourd, Yannis
Gautier, Elodie
Munnich, Arnold
Rio, Marlène
Rondeau, Sophie
El Chehadeh, Salima
Schaefer, Élise
Gérard, Bénédicte
Bouquillon, Sonia
Delorme, Catherine Vincent
Francannet, Christine
Laffargue, Fanny
Gouas, Laetitia
Isidor, Bertrand
Vincent, Marie
Blesson, Sophie
Giuliano, Fabienne
Pichon, Olivier
Le Caignec, Cédric
Journel, Hubert
Perrin-Sabourin, Laurence
Fabre-Teste, Jennifer
Martin, Dominique
Vieville, Gaelle
Dieterich, Klaus
Lacombe, Didier
Denommé-Pichon, Anne-Sophie
Thauvin-Robinet, Christel
Faivre, Laurence
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7382504
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7382504
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-020-0582-3
