Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome-Reference-Cited by-同舟云学术

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

Published:2020-08-17 Issue:10 Volume:182 Page:2333-2344
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Murakami Hiroaki¹^ORCID,Tsurusaki Yoshinori²^ORCID,Enomoto Keisuke¹,Kuroda Yukiko¹^ORCID,Yokoi Takayuki¹^ORCID,Furuya Noritaka¹,Yoshihashi Hiroshi¹,Minatogawa Mari¹^ORCID,Abe‐Hatano Chihiro¹,Ohashi Ikuko¹,Nishimura Naoto¹,Kumaki Tatsuro¹,Enomoto Yumi²^ORCID,Naruto Takuya²,Iwasaki Fuminori³,Harada Noriaki⁴,Ishikawa Aki⁵,Kawame Hiroshi⁶,Sameshima Kiyoko⁷,Yamaguchi Yu⁷,Kobayashi Masahisa⁸,Tominaga Makiko⁹,Ishikiriyama Satoshi¹⁰,Tanaka Toshiaki¹¹,Suzumura Hiroshi¹²,Ninomiya Shinsuke¹³,Kondo Akane¹⁴,Kaname Tadashi¹⁵^ORCID,Kosaki Kenjiro¹⁶,Masuno Mitsuo¹⁷,Kuroki Yoshikazu¹,Kurosawa Kenji¹^ORCID

Affiliation:

1. Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan

2. Clinical Research Institute Kanagawa Children's Medical Center Yokohama Japan

3. Division of Hematology/Oncology Kanagawa Children's Medical Center Yokohama Japan

4. Department of Clinical Laboratory Kanagawa Children's Medical Center Yokohama Japan

5. Department of Medical Genetics and Genomics Sapporo Medical University School of Medicine Sapporo Japan

6. Graduate School of Medicine Tohoku University Sendai Japan

7. Division of Medical Genetics Gunma Children's Medical Center Gunma Japan

8. Department of Pediatrics Jikei University School of Medicine Tokyo Japan

9. Children's Medical Center Northern Yokohama Hospital, Showa University Yokohama Japan

10. Division of Clinical Genetics and Cytogenetics Shizuoka Children's Hospital Shizuoka Japan

11. Tanaka Growth Clinic Tokyo Japan

12. Department of Pediatrics Dokkyo Medical University Tochigi Japan

13. Department of Clinical Genetics Kurashiki Central Hospital Kurashiki Japan

14. Department of Gynecology Shikoku Medical Center for Children and Adults Kagawa Japan

15. Department of Genome Medicine National Center for Child Health and Development Tokyo Japan

16. Center for Medical Genetics Keio University School of Medicine Tokyo Japan

17. Genetic Counseling Program Graduate School of Health and Welfare, Kawasaki University of Medical Welfare Kurashiki Japan

Funder

Core Research for Evolutional Science and Technology

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61793

Reference40 articles.

1. Kabuki syndrome: international consensus diagnostic criteria

2. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

3. MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

4. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

5. Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

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