O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the p...
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
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Author / Creator
Velmans, Clara , O'Donnell-Luria, Anne , Argilli, Emanuela , Tran Mau-Them, Frederic , Vitobello, Antonio , Chan, Marcus Cy , Fung, Jasmine Lee-Fong , Rech, Megan , Abicht, Angela , Aubert Mucca, Marion , Carmichael, Jason , Chassaing, Nicolas , Clark, Robin , Coubes, Christine , Denommé-Pichon, Anne-Sophie , de Dios, John Karl , England, Eleina , Funalot, Benoit , Gerard, Marion , Joseph, Maries , Kennedy, Colleen , Kumps, Camille , Willems, Marjolaine , van de Laar, Ingrid , Aarts-Tesselaar, Coranne , van Slegtenhorst, Marjon , Lehalle, Daphné , Leppig, Kathleen , Lessmeier, Lennart , Pais, Lynn , Paterson, Heather , Ramanathan, Subhadra , Rodan, Lance , Superti-Furga, Andrea , Chung, Brian H.Y. , Sherr, Elliott , Netzer, Christian , Schaaf, Christian and Erger, Florian
Publisher
BMJ Publishing Group
Journal title
Language
English
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Publication information
Publisher
BMJ Publishing Group
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More information
Scope and Contents
Contents
Background O’Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E . It was first described by O’Donnell-Luria et al in 2019 in a cohort of 38 patients. Clinical features encompass macrocephaly, mild intellectual disability (ID), autism spectrum disorder...
Alternative Titles
Full title
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Authors, Artists and Contributors
Author / Creator
O'Donnell-Luria, Anne
Argilli, Emanuela
Tran Mau-Them, Frederic
Vitobello, Antonio
Chan, Marcus Cy
Fung, Jasmine Lee-Fong
Rech, Megan
Abicht, Angela
Aubert Mucca, Marion
Carmichael, Jason
Chassaing, Nicolas
Clark, Robin
Coubes, Christine
Denommé-Pichon, Anne-Sophie
de Dios, John Karl
England, Eleina
Funalot, Benoit
Gerard, Marion
Joseph, Maries
Kennedy, Colleen
Kumps, Camille
Willems, Marjolaine
van de Laar, Ingrid
Aarts-Tesselaar, Coranne
van Slegtenhorst, Marjon
Lehalle, Daphné
Leppig, Kathleen
Lessmeier, Lennart
Pais, Lynn
Paterson, Heather
Ramanathan, Subhadra
Rodan, Lance
Superti-Furga, Andrea
Chung, Brian H.Y.
Sherr, Elliott
Netzer, Christian
Schaaf, Christian
Erger, Florian
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04939209v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04939209v1
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107470
