Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
deep intronic mutations
genotype–phenotype correlations
mosaic mutations
mutation detection methods
tuberous sclerosis complex
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
22 Sep 2022
22 Sep 2022
Historique:
received:
31
08
2022
revised:
16
09
2022
accepted:
19
09
2022
entrez:
14
10
2022
pubmed:
15
10
2022
medline:
18
10
2022
Statut:
epublish
Résumé
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by multiple dysplastic organ lesions and neuropsychiatric symptoms, caused by loss of function mutations in either
Identifiants
pubmed: 36232477
pii: ijms231911175
doi: 10.3390/ijms231911175
pmc: PMC9569560
pii:
doi:
Substances chimiques
Tuberous Sclerosis Complex 1 Protein
0
Tuberous Sclerosis Complex 2 Protein
0
Tumor Suppressor Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Japan Society for the Promotion of Science
ID : KAKENHI Grant Number 22K07854
Organisme : Tokumori Yasumoto Memorial Trust for Researches on TSC and Related Rare Neurological Diseases
ID : 2019
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