Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex-Reference-Cited by-同舟云学术

Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex

Author:

Cammarata-Scalisi F.¹,Vidales Moreno C.²,Stock F.³,Avendaño A.¹,Araque D.¹,Lacruz-Rengel M.A.⁴,Diociaiuti A.⁵,Bellacchio E.⁶,Callea M.⁷

Affiliation:

1. Department of Pediatrics; Faculty of Medicine; Unit of Medical Genetics; University of The Andes; Mérida Venezuela

2. Area Diagnóstica; DNA Data; San Sebastian Spain

3. Unit of Oncology; Institute Autonomous Hospital University of The Andes; Mérida Venezuela

4. Department of Pediatrics; Faculty of Medicine; Service of Neuropediatrics; University of The Andes; Mérida Venezuela

5. Unit of Dermatology; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

6. Research Laboratory; Bambino Gesù Children's Hospital - IRCCS; Rome Italy

7. Unit of Dentistry; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

Reference10 articles.

3. TSC2/PKD1 contiguous gene syndrome;Cammarata-Scalisi;Nefrologia,2017

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