De novo heterozygous variants in <i>KIF5B</i> cause kyphomelic dysplasia-Reference-Cited by-同舟云学术

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia

Published:2022-04-05 Issue:1 Volume:102 Page:3-11
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Itai Toshiyuki¹^ORCID,Wang Zheng²^ORCID,Nishimura Gen³,Ohashi Hirofumi⁴^ORCID,Guo Long²^ORCID,Wakano Yasuhiro⁵^ORCID,Sugiura Takahiro⁵^ORCID,Hayakawa Hiromi⁶,Okada Mayumi⁷,Saisu Takashi⁸^ORCID,Kitta Ayana⁹,Doi Hiroshi¹⁰^ORCID,Kurosawa Kenji¹¹^ORCID,Hotta Yoshihiro¹²^ORCID,Hosono Katsuhiro¹²,Sato Miho¹²,Shimizu Kenji¹³^ORCID,Takikawa Kazuharu¹⁴,Watanabe Seiji¹⁵^ORCID,Ikeda Naho¹⁶^ORCID,Suzuki Mitsuyoshi¹⁷^ORCID,Fujita Atsushi¹,Uchiyama Yuri¹¹⁸^ORCID,Tsuchida Naomi¹¹⁸^ORCID,Miyatake Satoko¹¹⁹^ORCID,Miyake Noriko²⁰^ORCID,Matsumoto Naomichi¹^ORCID,Ikegawa Shiro²^ORCID

Affiliation:

1. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

2. Laboratory for Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences Tokyo Japan

3. Center for Intractable Diseases Saitama Medical University Hospital Saitama Japan

4. Division of Medical Genetics Saitama Children's Medical Center Saitama Japan

5. Department of Pediatrics Toyohashi Municipal Hospital Toyohashi Japan

6. Department of Obstetrics Aichi Children's Health and Medical Center Obu Japan

7. Department of Obstetrics and Gynecology Genome Medical Center, Toyohashi Municipal Hospital Toyohashi Japan

8. Department of Pediatric Orthopaedics Chiba Child & Adult Orthopaedic Clinic Chiba Japan

9. Department of Orthopedic Surgery Tokyo Women's Medical University, Yachiyo Medical Center Chiba Japan

10. Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine Yokohama Japan

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

12. Department of Ophthalmology Hamamatsu University School of Medicine Hamamatsu Japan

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

14. Department of Pediatric Orthopedics Shizuoka Children's Hospital Shizuoka Japan

15. Department of Pediatrics Izu Medical and Welfare Center Izunokuni Japan

16. Department of Neonatology Juntendo University Shizuoka Hospital Shizuoka Japan

17. Department of Pediatrics Juntendo University Faculty of Medicine Tokyo Japan

18. Department of Rare Disease Genomics Yokohama City University Hospital Yokohama Japan

19. Clinical Genetics Department Yokohama City University Hospital Yokohama Japan

20. Departmentof Human Genetics Research Institute, National Center for Global Health and Medicine Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14133

Reference17 articles.

1. Nosology and classification of genetic skeletal disorders: 2019 revision

2. Intracellular Transport and Kinesin Superfamily Proteins, KIFs: Structure, Function, and Dynamics

3. ‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

4. Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B

5. Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

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