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Discordant expression of a newWT1gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome

✍ Scribed by Filip Fencl; Michal Malina; Veronika Stará; Jakub Zieg; Dana Mixová; Tomáš Seeman; Květa Bláhová


Publisher
Springer
Year
2011
Tongue
English
Weight
138 KB
Volume
171
Category
Article
ISSN
0340-6997

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Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on