Identification of a novel mutation in the gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia

By Yoo Han-Wook   Shin Young-Lim   Seo Eul-Ju   Kim Gu-Hwan  

European Journal of Pediatrics, Vol. 161, Iss. 6, 2002-06 ,pp. : 351-353

Springer Publishing Company

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A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome

By Girisha Katta   Bidchol Abdul   Sarpangala Murali   Satyamoorthy Kapaettu  

The Indian Journal of Pediatrics, Vol. 81, Iss. 3, 2014-03 ,pp. : 302-304

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Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

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European Journal of Pediatrics, Vol. 163, Iss. 1, 2004-01 ,pp. : 33-37

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Dentition Abnormalities in a Timothy Syndrome Patient With a Novel Genetic Mutation: A Case Report

By Papineau Scott D.   Wilson Stephen  

Pediatric Dentistry, Vol. 36, Iss. 3, 2014-06 ,pp. : 245-249

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A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

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European Journal of Pediatrics, Vol. 163, Iss. 12, 2004-12 ,pp. : 704-708

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