Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

Babovic-Vuksanovic, D

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. [electronic resource] - European journal of human genetics : EJHG Jun 2012 - 618-25 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2011.275 doi


Adolescent
Face--abnormalities
Female
Humans
Male
Marfan Syndrome--pathology
Mutation
Nerve Sheath Neoplasms--pathology
Neurofibromatoses--pathology
Pain--genetics
Schwann Cells--metabolism
Young Adult