Johanson-Blizzard syndrome. Report of a case and review of the literature

• প্রধান লেখক: Sandra Montserrat Nájera-Villagrana (লেখক), Armando Reyes-Cadena (লেখক), Angélica León-Hernández (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Instituto Nacional de Pediatría, 2014-07-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...