Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
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| Title: | Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. |
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| Authors: | Krab LC; Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands. lkrab@cordaan.nl.; Cordaan, Outpatient Clinic for ID Medicine, Klinkerweg 75, 1033 PK, Amsterdam, The Netherlands. lkrab@cordaan.nl.; Odion, Outpatient Clinic for ID Medicine, Purmerend, The Netherlands. lkrab@cordaan.nl., Marcos-Alcalde I; Molecular Modelling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain.; School of Experimental Sciences-IIB, Universidad Francisco de Vitoria, UFV, Pozuelo de Alarcón, Spain., Assaf M; Banner Childrens Specialists Neurology Clinic, Glendale, AZ, USA., Balasubramanian M; Clinical Genetics Service, Sheffield Children's Hospital, Academic Unit for Child Health, University of Sheffield, Sheffield, UK., Andersen JB; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600, Glostrup, Denmark., Bisgaard AM; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Fitzpatrick DR; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK., Gudmundsson S; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Huisman SA; Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands.; Prinsenstichting, Purmerend, The Netherlands., Kalayci T; Division of Medical Genetics, Department of Internal Medicine, Istanbul University, Istanbul, Turkey., Maas SM; Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands.; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Menke LA; Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands., Mulder PA; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands., Murch OD; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Parker M; Clinical Genetic Service, Northern General Hospital, Sheffield, UK., Pie J; Unit of Clinical Genetics Unit, Service of Pediatrics, University Hospital 'Lozano Blesa', University of Zaragoza School of Medicine, Saragossa, Spain., Ramos FJ; Unit of Clinical Genetics Unit and Functional Genomics, Department of Pharmacology and Physiology, University of Zaragoza School of Medicine, Saragossa, Spain., Rieubland C; Department of Pediatrics, Division of Human Genetics, Inselspital, University of Bern, Bern, Switzerland., Rosenfeld Mokry JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Baylor Genetics Laboratories, Houston, TX, USA., Scarano E; Rare Disease Unit, Department of Pediatrics, St. Orsola Hospital, Bologna, Italy., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Gómez-Puertas P; Molecular Modelling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600, Glostrup, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk., Hennekam RC; Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands. R.c.hennekam@amsterdamumc.nl. |
| Source: | Human genetics [Hum Genet] 2020 May; Vol. 139 (5), pp. 575-592. Date of Electronic Publication: 2020 Mar 19. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-020-02138-2 |
