Ontology highlight
ABSTRACT:
SUBMITTER: Praxedes LA
PROVIDER: S-EPMC2957849 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Praxedes L A LA Pereira F M FM Mazzeu J F JF Costa S S SS Bertola D R DR Kim C A CA Vianna-Morgante A M AM Otto P A PA
Molecular syndromology 20100914 3
We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome. ...[more]