Rothmund‐Thomson syndrome investigated by two nationwide surveys in Japan-Reference-Cited by-同舟云学术

Rothmund‐Thomson syndrome investigated by two nationwide surveys in Japan

Published:2022-01 Issue:1 Volume:64 Page:
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Kaneko Hideo¹^ORCID,Takemoto Minoru²,Murakami Hiroaki¹,Ihara Kenji³^ORCID,Kosaki Rika⁴,Motegi Sei‐ichiro⁵,Taniguchi Akira⁶,Matsuo Muneaki⁷^ORCID,Yamazaki Naoya⁸,Nishigori Chikako⁹,Takita Junko¹⁰,Koshizaka Masaya¹¹,Maezawa Yoshiro¹¹,Yokote Koutaro¹¹

Affiliation:

1. Department of Pediatric Medical Care Gifu Prefectural General Medical Center Gifu Japan

2. Department of Medicine Division of Diabetes, Metabolism and Endocrinology International University of Health and Welfare Chiba Japan

3. Department of Pediatrics Faculty of Medicine Oita University Oita Japan

4. Division of Medical Genetics National Center for Child Health and Development Tokyo Japan

5. Department of Dermatology Gunma University Graduate School of Medicine Gunma Japan

6. Department of Orthopaedic Surgery Nara Medical University Nara Japan

7. Department of Pediatrics Faculty of Medicine Saga University Saga Japan

8. Department of Dermatologic Oncology National Cancer Center Hospital Tokyo Japan

9. Division of Dermatology Kobe University Graduate School of Medicine Kobe Japan

10. Department of Pediatrics Graduate School of Medicine Kyoto University Kyoto Japan

11. Department of Endocrinology, Hematology, and Gerontology Chiba University Graduate School of Medicine Chiba Japan

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.15120

Reference12 articles.

1. Ueber Cataracten in Verbindung mit einer eigenthümlichen Hautdegeneration

2. POIKILODERMA CONGEXITALE

3. RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting

4. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase

5. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

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1. Progeroid syndromes;Die Dermatologie;2023-08-31

2. Molecular and Cellular Responses to Ionization Radiation in Untransformed Fibroblasts from the Rothmund–Thomson Syndrome: Influence of the Nucleo-Shuttling of the ATM Protein Kinase;Radiation;2023-01-18