Johanson-Blizzard syndrome

Known as: Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia, Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness, Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1978-2018
05101519782018

Papers overview

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2014
2014
CONTEXT Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive syndrome characterized by dysmorphic nasal alae… (More)
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2011
2011
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency… (More)
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2011
2011
BACKGROUND Johanson-Blizzard syndrome (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine… (More)
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2010
2010
Johanson–Blizzard syndrome is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide… (More)
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2008
2008
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency, and… (More)
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2008
2008
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a… (More)
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Review
2006
Review
2006
The most recent elucidation of an inherited disorder of the pancreas concerns the Johanson-Blizzard syndrome (JBS). Positional… (More)
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2003
2003
The Johanson-Blizzard Syndrome (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a… (More)
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2000
2000
Pancreatic exocrine insufficiency in Johanson-Blizzard syndrome (JBS) is well described but only two previous patient reports… (More)
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1989
1989
Here we report on 2 sibs with the Johanson-Blizzard syndrome (JBS). The first child died in the neonatal period, the autopsy… (More)
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