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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 40114033
DOIDOI 10.1038/s41431-025-01821-0
Publication Year2025
TitleXRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
JournalEuropean Journal of Human Genetics
ISSN1018-4813
eISSN1476-5438
URL https://doi.org/10.1038/s41431-025-01821-0
Journal AbbreviationEur J Hum Genet
AuthorsCuinat S, Chatron N, Petit F, Brunelle P, Dincuff E, Aubert Mucca M, Bieth E, Schmetz A, Rieder H, Wollnik B, Kaulfuß S, Yigit G, McKeown C, Savage T, Mulligan MR, Bicknell LS, Corsten-Janssen N, Edery P, Lesca G, de Villartay J, Putoux A
First AuthorCuinat S
Last AuthorPutoux A

 External Resources

 nature.c...-0.pdf  Article fulltext

 gro-2/148435  GRO.publications identifier

 RCV004798185.1  NCBI clinvar (RCV004798185.1)

 RCV004798186.1  NCBI clinvar (RCV004798186.1)

 0000-0002-0763-5661  ORCID identifier (Silvestre Cuinat)

 0000-0003-0538-0981  ORCID identifier (Nicolas Chatron)

 0000-0002-1368-1023  ORCID identifier (Florence Petit)

 0000-0002-3589-6885  ORCID identifier (Perrine Brunelle)

 0000-0002-8638-2630  ORCID identifier (Marion Aubert Mucca)

 0000-0003-3126-5493  ORCID identifier (Eric Bieth)

 0000-0001-8220-7854  ORCID identifier (Ariane Schmetz)

 0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 0000-0003-2577-9711  ORCID identifier (Silke Kaulfuß)

 0000-0003-2777-0198  ORCID identifier (Gökhan Yigit)

 0009-0009-7673-5111  ORCID identifier (Meghan R. Mulligan)

 0000-0001-6899-9322  ORCID identifier (Louise S. Bicknell)

 0000-0002-9438-2374  ORCID identifier (Nicole Corsten-Janssen)

 0000-0001-8976-5832  ORCID identifier (Patrick Edery)

 0000-0001-7691-9492  ORCID identifier (Gaetan Lesca)

 0000-0001-5987-0463  ORCID identifier (Jean-Pierre de Villartay)

 0000-0001-5496-4604  ORCID identifier (Audrey Putoux)

 1/586  Research Data Archive (supplemental material)

 02feahw73  ROR identifier (02feahw73, Centre National de la Recherche Scientifique)

 006k2kk72  ROR identifier (006k2kk72, Düsseldorf University Hospital)

 031t5w623  ROR identifier (031t5w623, German Centre for Cardiovascular Research)

 03vcx3f97  ROR identifier (03vcx3f97, Hôpital Purpan)

 01502ca60  ROR identifier (01502ca60, Hospices Civils de Lyon)

 02vjkv261  ROR identifier (02vjkv261, Inserm)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 029brtt94  ROR identifier (029brtt94, Université Claude Bernard Lyon 1)

 02kzqn938  ROR identifier (02kzqn938, Université de Lille)

 05f82e368  ROR identifier (05f82e368, Université Paris Cité)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 03cv38k47  ROR identifier (03cv38k47, University Medical Center Groningen)

 012p63287  ROR identifier (012p63287, University of Groningen)

 01jmxt844  ROR identifier (01jmxt844, University of Otago)

 007n45g27  ROR identifier (007n45g27, Wellington Hospital)

 SCR_010910  SciCrunch identifier (RRID:SCR_010910, BWA)

 SCR_001802  SciCrunch identifier (RRID:SCR_001802, CASAVA)

 SCR_001876  SciCrunch identifier (RRID:SCR_001876, GATK)

 SCR_020132  SciCrunch identifier (RRID:SCR_020132, Illumina HiSeq2000 High Throughput Genetic Sequencer)

 SCR_014983  SciCrunch identifier (RRID:SCR_014983, Illumina NextSeq 500)

 SCR_016381  SciCrunch identifier (RRID:SCR_016381, Illumina NextSeq 550 System)

 static-c...M.docx  Supplemental material

 goeseek.gwdguser.de/studies/231  Supplemental material (goeseek study)

 static-c...M.xlsx  Supplemental material (table)

 static-c...M.xlsx  Supplemental material (table)

 mbexc.de...aches/  Website entry (mbexc.de)