Johanson–Blizzard syndrome. Report of a case and review of the literature
The Johanson-Blizzard syndrome is an autosomal recessive disease characterized by aplasia or hypoplasia of the wings of the nose, exocrine pancreatic insufficiency, hypothyroidism, dental abnormalities and mental retardation. There are fewer than 100 cases reported in the literature worldwide. We do...
Main Authors: | , , |
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Format: | Article |
Language: | Spanish |
Published: |
Instituto Nacional de Pediatría
2014-07-01
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Series: | Acta Pediátrica de México |
Subjects: | |
Online Access: | http://ojs.actapediatrica.org.mx/index.php/APM/article/view/697 |