dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Cali, Elisa |
dc.contributor.author | Suri, Mohnish |
dc.contributor.author | Scala, Marcello |
dc.contributor.author | Ferla, Matteo |
dc.contributor.author | Alavi, Shahryar |
dc.contributor.author | Faqeih, Eissa |
dc.contributor.author | Valenzuela Palafoll, Ma Irene |
dc.date.accessioned | 2023-04-11T12:18:38Z |
dc.date.available | 2023-04-11T12:18:38Z |
dc.date.issued | 2023-01 |
dc.identifier.citation | Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, et al. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 Jan;25(1):135–42. |
dc.identifier.issn | 1098-3600 |
dc.identifier.uri | https://hdl.handle.net/11351/9325 |
dc.description | Cromatinopatia; Trastorn sindròmic del neurodesenvolupament; Obesitat sindròmica |
dc.description.sponsorship | The authors thank all patients and families for participation in this study. Part of this research was possible thanks to the Deciphering Developmental Disorders study. The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of DECIPHER (http://www.deciphergenomics.org), which is funded by Wellcome. See www.ddduk.org/access.html for full acknowledgment. This study was also supported by the Wellcome Trust (WT093205MA and WT104033AIA to H.H. and 203141/Z/16/Z to M.P.F. and J.C.T.), Medical Research Council (H.H.), European Community’s Seventh Framework Programme (FP7/2007-2013, under grant agreement No. 2012-305121 to H.H.), the National Institute for Health Research (NIHR), University College London Hospitals, Biomedical Research Centre, and Fidelity Foundation. The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute. D.B. is supported by NIHR Research Professorship (RP-2016-07-011). F.L. and A.G. received funding from European Union and Région Normandie in the context of Recherche Innovation Normandie 2018. Europe gets involved in Normandie with the European Regional Development Fund. The authors thank the families and KFMC Research Centre for the partial support (Intramural Research Fund; Demography of Recessive Diseases in KSA; Grant No. 019-052). This work was also supported by King Salman Center for Disability research through Research Group RG-2022-010. |
dc.language.iso | eng |
dc.publisher | Elsevier |
dc.relation.ispartofseries | Genetics in Medicine;25(1) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Nanisme |
dc.subject | Neurobiologia del desenvolupament |
dc.subject | Discapacitat intel·lectual - Aspectes genètics |
dc.subject.mesh | Neurodevelopmental Disorders |
dc.subject.mesh | /genetics |
dc.subject.mesh | Intellectual Disability |
dc.subject.mesh | Dwarfism |
dc.title | Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1016/j.gim.2022.09.016 |
dc.subject.decs | trastornos del desarrollo neurológico |
dc.subject.decs | /genética |
dc.subject.decs | discapacidad intelectual |
dc.subject.decs | enanismo |
dc.relation.publishversion | https://doi.org/10.1016/j.gim.2022.09.016 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Cali E] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. [Suri M] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. [Scala M] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [Ferla MP] Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. [Alavi S] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. [Faqeih EA] Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain |
dc.identifier.pmid | 36399134 |
dc.identifier.wos | 000928239000001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |