Article
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.
European journal of medical genetics - 1 Jan 2000
Linhares Natália D, Freire Maíra C M, Cardenas Raony G C C L, Pena Heloísa B, Bahia Magda, Pena Sergio D J
Abstract excerpt
Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign course, usually with spontaneous regression of the tumors. On the other hand, the prognosis tends...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.