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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

dc.rights.licenseopenen_US
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorBLOCH-ZUPAN, Agnès
dc.contributor.authorBREDRUP, Cecilie
dc.contributor.authorCOOPER, Edward B
dc.contributor.authorHOUGE, Sofia Douzgou
dc.contributor.authorGARCÍA-MIÑAÚR, Sixto
dc.contributor.authorKAYSERILI, Hülya
dc.contributor.authorLARIZZA, Lidia
dc.contributor.authorLOPEZ GONZALEZ, Vanesa
dc.contributor.authorMENKE, Leonie A
dc.contributor.authorMILANI, Donatella
dc.contributor.authorSAETTINI, Francesco
dc.contributor.authorSTEVENS, Cathy A
dc.contributor.authorTOOKE, Lloyd
dc.contributor.authorVAN DER ZEE, Jill A
dc.contributor.authorVAN GENDEREN, Maria M
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorVAN-GILS, Julien
dc.contributor.authorWAITE, Jane
dc.contributor.authorADRIEN, Jean-Louis
dc.contributor.authorBARTSCH, Oliver
dc.contributor.authorBITOUN, Pierre
dc.contributor.authorBOUTS, Antonia H M
dc.contributor.authorCUETO-GONZÁLEZ, Anna M
dc.contributor.authorDOMINGUEZ-GARRIDO, Elena
dc.contributor.authorDUIJKERS, Floor A
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Génomique Fonctionnelle Bordeaux [Bordeaux] [CGFB]
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorFERGELOT, Patricia
dc.contributor.authorHALSTEAD, Elizabeth
dc.contributor.authorHUISMAN, Sylvia A
dc.contributor.authorMEOSSI, Camilla
dc.contributor.authorMULLINS, Jo
dc.contributor.authorNIKKEL, Sarah M
dc.contributor.authorOLIVER, Chris
dc.contributor.authorPRADA, Elisabetta
dc.contributor.authorREI, Alessandra
dc.contributor.authorRIDDLE, Ilka
dc.contributor.authorRODRIGUEZ-FONSECA, Cristina
dc.contributor.authorRODRÍGUEZ PENA, Rebecca
dc.contributor.authorRUSSELL, Janet
dc.contributor.authorSABA, Alicia
dc.contributor.authorSANTOS-SIMARRO, Fernando
dc.contributor.authorSIMPSON, Brittany N
dc.contributor.authorSMITH, David F
dc.contributor.authorSTEVENS, Markus F
dc.contributor.authorSZAKSZON, Katalin
dc.contributor.authorTAUPIAC, Emmanuelle
dc.contributor.authorTOTARO, Nadia
dc.contributor.authorVALENZUENA PALAFOLL, Irene
dc.contributor.authorVAN DER KAAY, Daniëlle C M
dc.contributor.authorVAN WIJK, Michiel P
dc.contributor.authorVYSHKA, Klea
dc.contributor.authorWILEY, Susan
dc.contributor.authorHENNEKAM, Raoul C
dc.date.accessioned2024-07-16T09:58:28Z
dc.date.available2024-07-16T09:58:28Z
dc.date.issued2024-05-21
dc.identifier.issn1468-6244en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/200959
dc.description.abstractEnRubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (, ) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: ; RTS2: ), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/us/*
dc.subject.enRubinstein-Taybi Syndrome
dc.subject.enHumans
dc.subject.enCREB-Binding Protein
dc.subject.enE1A-Associated p300 Protein
dc.subject.enConsensus
dc.subject.enDisease Management
dc.subject.enMutation
dc.title.enDiagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
dc.title.alternativeJ Med Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1136/jmg-2023-109438en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed38471765en_US
bordeaux.journalJournal of Medical Geneticsen_US
bordeaux.page503-519en_US
bordeaux.volume61en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue6en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BY-NCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal%20of%20Medical%20Genetics&rft.date=2024-05-21&rft.volume=61&rft.issue=6&rft.spage=503-519&rft.epage=503-519&rft.eissn=1468-6244&rft.issn=1468-6244&rft.au=LACOMBE,%20Didier&BLOCH-ZUPAN,%20Agn%C3%A8s&BREDRUP,%20Cecilie&COOPER,%20Edward%20B&HOUGE,%20Sofia%20Douzgou&rft.genre=article


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