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Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex
- Source :
- Journal of the European Academy of Dermatology and Venereology. 32:e243-e245
- Publication Year :
- 2018
- Publisher :
- Wiley, 2018.
- Subjects :
- Nervous system
Pathology
medicine.medical_specialty
business.industry
Dermatology
medicine.disease
030207 dermatology & venereal diseases
03 medical and health sciences
Tuberous sclerosis
0302 clinical medicine
Infectious Diseases
medicine.anatomical_structure
Severe phenotype
medicine
TSC2
business
Gene
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 09269959
- Volume :
- 32
- Database :
- OpenAIRE
- Journal :
- Journal of the European Academy of Dermatology and Venereology
- Accession number :
- edsair.doi...........981c1c13bb0288c98bf7818db0478790
- Full Text :
- https://doi.org/10.1111/jdv.14765