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