Article
[Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation].
Neurologia (Barcelona, Spain) - 1 Sept 2006
Pascual-Castroviejo I, Pascual-Pascual S I, Velazquez R, van den Ouweland A M W, Halley D J J
Abstract excerpt
We present a family with tuberous sclerosis complex type 1 (TSC1). The family is formed by six patients. Two sibs, female and male, both patients having minor signs of the disorder. The woman have two daughters, one of them with severe clinical and radiological features of TSC1, and the other who only has a small cutaneous acromic spot. The man has two sons, one with severe features of TSC1, and the other with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
