The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus

The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus

The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria...

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Bibliographic Details
Main Authors: João Paulo Nunes Drumond, Bruna Bianca Allegro, Wilson Roberto Sendyk, Fabiana Martins e Martins de Oliveira
Format: Article
Language:English
Published: Thieme Revinter Publicações Ltda. 2016-12-01
Series:Revista Brasileira de Cirurgia Plástica
Subjects:
basal cell nevus syndrome
hypertelorism
macrocephaly
buccal pathology
hypertrophic cardiomyopathy
Online Access:http://www.rbcp.org.br/export-pdf/1800/en_v31n4a22.pdf
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http://www.rbcp.org.br/export-pdf/1800/en_v31n4a22.pdf

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