Open AccessIdentification of a de novo TSC2 variant in a Han-Chinese family with tuberous sclerosis complex
Author(s) -
Shan Wu,
Yi Guo,
Chun Liu,
Qingxiang Liu,
Hao Deng,
Lamei Yuan
Publication year - 2020
Publication title -
journal of the chinese medical association
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.535
H-Index - 42
eISSN - 1728-7731
pISSN - 1726-4901
DOI - 10.1097/jcma.0000000000000455
Subject(s) - tuberous sclerosis , tsc1 , tsc2 , sanger sequencing , exome sequencing , medicine , genetics , gene , dna sequencing , pathology , biology , mutation , pi3k/akt/mtor pathway , apoptosis
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a variety of clinical findings. Variants in the TSC complex subunit 1 gene (TSC1) or the TSC complex subunit 2 gene (TSC2) are responsible for TSC.