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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer-Verlag

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10.1016/0002-8703(71)90211-0

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1432-1076

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Authors: Nima Rezaei Mozhgan Sabbaghian Zhifeng Liu Martin Zenker
Publish Date: 2010/06/17
Volume: 170, Issue: 2, Pages: 179-183
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Abstract

JohansonBlizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the UbiquitinProtein Ligase E3 Component NRecognin 1 UBR1 gene The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features including aplasia or hypoplasia of the alae nasi oligodontia sensorineural hearing loss hypothyroidism scalp defects mental retardation and developmental delay Several other abnormalities in different organs particularly anorectal urogenital and cardiac anomalies have been reported since the first description of this syndrome four decades ago UBR1 gene defects are underlying the disease Only symptomatic treatment is available Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for JohansonBlizzard syndrome

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