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Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child

Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were...

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Detalles Bibliográficos
Autores principales:	Alves, Cresio, Fernandes, Julia Constança, Sampaio, Silvana, Paiva, Raquel de Melo Alves, Calado, Rodrigo Tocantins
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Associação Brasileira de Hematologia e Hemoterapia 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789437/ https://www.ncbi.nlm.nih.gov/pubmed/24106450 http://dx.doi.org/10.5581/1516-8484.20130058

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