| Autor: |
Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-024-00297-6 |
| Popis: |
Abstract Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a mild case of CS with a novel start-loss variant in ERCC8 that did not show the characteristic symptoms of CS during early childhood and exhibited sudden growth failure after the age of 10 years. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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Full text from SpringerLink