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Johanson-Blizzard Syndrome.
Indian Pediatr ; 2013 May; 50(5): 510-512
Article in English | IMSEAR | ID: sea-169814
ABSTRACT
We present clinical features and genetic diagnosis in an Indian infant diagnosed with Johanson- Blizzard syndrome. This is a rare, autosomal recessive genetic condition with multi-system involvement and a characteristic facies. Molecular genetic testing is important to confirm the clinical diagnosis and offer prenatal diagnosis in future pregnancies.

Full text: Available Index: IMSEAR (South-East Asia) Language: English Journal: Indian Pediatr Year: 2013 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Language: English Journal: Indian Pediatr Year: 2013 Type: Article