A child with tuberous sclerosis having Novel NRAS gene mutation

A child with tuberous sclerosis having Novel NRAS gene mutation

Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs, such as the brain, heart, kidneys, skin, lung...

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Bibliographic Details
Main Authors: P. N. Liveinai, Neeraj Kumar, Jyoti Kadian, Dinkar Yadav, Kapil Bhalla
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-07-01
Series:Journal of Family Medicine and Primary Care
Subjects:
hypomelanotic macules
noonan syndrome
subependymal nodules
vigabatrin
Online Access:https://journals.lww.com/10.4103/jfmpc.jfmpc_1917_24
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