Johanson-Blizzard Syndrome.
Indian Pediatr
;
2013 May; 50(5): 510-512
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2013
Tipo de documento:
Artigo
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