Showing posts with label Neurofibromatosis type 1. Show all posts
Showing posts with label Neurofibromatosis type 1. Show all posts

Sunday, October 30, 2016

Scientists link single gene to some cases of autism spectrum disorder

St Louis: Scientists have linked mutations in a single gene to autism in people who have a rare tumor syndrome typically diagnosed in childhood.
The findings, in patients with neurofibromatosis type 1 (NF1), may lead to a better understanding of the genetic roots of autism in the wider population.
The findings are published Oct. 19 in the journal JAMA Psychiatry.

Friday, October 3, 2014

Von Recklinghausen disease

Von Recklinghausen disease or Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas (benign nerve sheath tumors).

More about Von Recklinghausen disease or Neurofibromatosis type 1

Von Recklinghausen disease

Von Recklinghausen disease or Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas (benign nerve sheath tumors).