Identification of the causative variants in five Chinese families with tuberous sclerosis complex
Objective To identify the causative variants in 5 Chinese families with tuberous sclerosis complex (TSC) to provide genetic counseling and prenatal diagnosis. Methods Genetic counseling and clinical diagnosis were performed in 8 patients from five unrelated TSC families by teleconsultation. With i...
Salvato in:
| Autore principale: | |
|---|---|
| Natura: | Artigo |
| Lingua: | Chinês |
| Pubblicazione: |
Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.
2024-03-01
|
| Serie: | Jichu yixue yu linchuang |
| Soggetti: | |
| Accesso online: | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2024-44-3-361.pdf |
| Tags: |
Nessun Tag, puoi essere il primo ad aggiungerne!!
|