Literature DB >> 16758438

Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

M T V Sanseverino, C F M de Souza, P Gissen, A O Sordi, J A Magalhães, L Schüler-Faccini.   

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Year:  2006        PMID： 16758438     DOI： 10.1002/uog.2822

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN： 0960-7692            Impact factor:   7.299


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  2 in total

1.  Clinical and molecular genetic features of ARC syndrome.

Authors:  Paul Gissen; Louise Tee; Colin A Johnson; Emmanuelle Genin; Almuth Caliebe; David Chitayat; Carol Clericuzio; Jonas Denecke; Maja Di Rocco; Björn Fischler; David FitzPatrick; Angeles García-Cazorla; Delphine Guyot; Sebastien Jacquemont; Sibylle Koletzko; Bruno Leheup; Hanna Mandel; Maria Teresa Vieira Sanseverino; Roderick H J Houwen; Patrick J McKiernan; Deirdre A Kelly; Eamonn R Maher
Journal:  Hum Genet       Date:  2006-08-01       Impact factor: 4.132

Review 2.  Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

Authors:  Yaoyao Zhou; Junfeng Zhang
Journal:  Ital J Pediatr       Date:  2014-09-20       Impact factor: 2.638
  2 in total

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