MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study-Reference-Cited by-同舟云学术

MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Published:2013-04-26 Issue:6 Volume:84 Page:539-545
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Makrythanasis P¹,van Bon BW²,Steehouwer M²,Rodríguez-Santiago B²³⁴⁵,Simpson M⁶,Dias P⁶,Anderlid BM⁷⁸,Arts P²,Bhat M⁹,Augello B¹⁰,Biamino E¹¹,Bongers EMHF²,del Campo M³⁴⁵¹²¹³,Cordeiro I⁶,Cueto-González AM¹³¹⁴,Cuscó I³⁴⁵¹²,Deshpande C¹⁵,Frysira E¹⁶,Izatt L¹⁷,Flores R³⁴⁵¹²,Galán E¹⁷,Gener B¹⁸,Gilissen C²,Granneman SM²,Hoyer J¹⁹,Yntema HG²,Kets CM²,Koolen DA²,Marcelis CL²,Medeira A⁶,Micale L⁸,Mohammed S¹⁵,de Munnik SA²,Nordgren A⁷⁸,Psoni S¹⁶,Reardon W²⁰,Revencu N²¹,Roscioli T²²²,Ruiterkamp-Versteeg M²,Santos HG⁶,Schoumans J²³²⁴,Schuurs-Hoeijmakers JHM²,Silengo MC¹¹,Toledo L²⁵,Vendrell T¹³,van der Burgt I²,van Lier B²,Zweier C¹⁹,Reymond A²⁶,Trembath RC²⁷,Perez-Jurado L³⁴⁵¹²,Dupont J⁶,de Vries BBA²,Brunner HG²,Veltman JA²,Merla G¹⁰,Antonarakis SE²²⁸,Hoischen A²

Affiliation:

1. Departement of Genetic Medicine and Development; University of Geneva; Geneva Switzerland

2. Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders; Radboud University Nijmegen Medical Centre; Nijmegen The Netherlands

3. Unitat de Genètica; Universitat Pompeu Fabra

4. Hospital del Mas Medical Research Institute (IMIM)

5. Quantitative Genomic Medicine Laboratories, Ltd (qGenomics); Barcelona Spain

6. Hospital de Santa Maria; Serviço de Genética Médica; Lisbon Portugal

7. Department of Molecular Medicine and Surgery and Center for Molecular Medicine; Karolinska Institutet

8. Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden

9. Centre for Human Genetics; Bangalore India

10. Medical Genetics Unit; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo

11. Dipartimento di Scienze Pediatriche; Università di Torino; Torino Italy

12. CIBER de enfermedades raras (CIBERER)

13. Programa de Medicina Molecular y Genética; Hospital Vall d'Hebron

14. Pediatric Service, Hospital Universitari Mútua de Terrassa; Terrassa (Barcelona) Spain

15. Clinical Genetics, Guy's Hospital; Guy's and St. Thomas' National Health Service (NHS) Foundation Trust; London UK

16. Laboratory of Medical Genetics, Medical School; University of Athens; Athens Greece

17. Servicio de Genética, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo; Bizkaia, Spain

18. Clinical Genetics Unit; Hospital de Cruces; Barakaldo Bizkaia Spain

19. Institute of Human Genetics; Friedrich-Alexander-University Erlangen-Nuremberg; Erlangen Germany

20. National Centre for Medical Genetics; Our Lady's Hospital for Sick Children; Dublin 12 Ireland

21. Centre for Human Genetics, Cliniques Universitaires Saint-Luc; Université Catholique de Louvain; Brussels Belgium

22. School of Women's and Children's Health, Sydney Children's Hospital; University of New South Wales; Sydney Australia

23. Department of Medical Genetics, Cancer Cytogenetic Unit; University Hospital of Lausanne; Lausanne Switzerland

24. Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden

25. Hospital Materno Infantil; Unidad de Neurologia Infantil; Las Palmas de Gran Canaria Spain

26. The Center for Integrative Genomics; University of Lausanne; Lausanne

27. Division of Genetics and Molecular Medicine, Guy's Hospital; King's College London School of Medicine; London UK

28. Service of Genetic Medicine; University Hospitals of Geneva; Geneva Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency;Niikawa;J Pediatr,1981

2. Kabuki make-up syndrome: a review;Matsumoto;Am J Med Genet C Semin Med Genet,2003

3. Kabuki syndrome: a review;Adam;Clin Genet,2005

4. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat Genet,2010

5. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2012

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