Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability

Am J Med Genet A. 2014 Oct;164A(10):2685-8. doi: 10.1002/ajmg.a.36690. Epub 2014 Jul 31.

Authors

Mariana Moysés Oliveira¹, Vera Ayres Meloni, Rosane Seidler Canonaco, Sylvia Satomi Takeno, Adriana Bortolai, Claudia Berlim de Mello, Fernanda Teresa de Lima, Maria Isabel Melaragno

Affiliation

¹ Department of Morphology and Genetics, Universidade Federal de São Paulo, Brazil.

PMID: 25081192
DOI: 10.1002/ajmg.a.36690

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Gene Rearrangement / genetics*
Humans
Intellectual Disability / genetics*
Intestinal Polyposis / genetics*
Male
Telangiectasia, Hereditary Hemorrhagic / genetics*

Supplementary concepts

Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia