Gnathodiaphyseal dysplasia caused by mutations in ANO5
Objective To identify the clinical features and pathogenic variants in two unrelated families with gnathodiaphyseal dysplasia (GDD), a rare genetic bone disorder. Methods Facial and limb deformities and skeletal morphology were observed in the probands and their family members. Peripheral blood samp...
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| Main Author: | |
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| Format: | Article |
| Language: | zho |
| Published: |
Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.
2024-11-01
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| Series: | Jichu yixue yu linchuang |
| Subjects: | |
| Online Access: | https://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2024-44-11-1504.pdf |
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