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...

Celý popis

Podrobná bibliografie

Hlavní autor:	LIU Siyi, YANG Yujiao, YANG Tao, ZHAO Xiuli
Médium:	Artigo
Jazyk:	Chinês
Vydáno:	Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2024-03-01
Edice:	Jichu yixue yu linchuang
Témata:	tuberous sclerosis complex|tsc1|tsc2|novel pathogenic variant
On-line přístup:	http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2024-44-3-361.pdf
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!