Journal of Pediatric Gastroenterology and Nutrition

Volume 46, Issue 1 pp. 111-112

Short Communications

CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

Anne Davit-Spraul,

Anne Davit-Spraul

Biochemistry Laboratory, France

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Christiane Baussan,

Christiane Baussan

Biochemistry Laboratory, France

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Bogdan Hermeziu,

Bogdan Hermeziu

Pediatric Hepatology Unit and National Reference Centre for Biliary Atresia, Bicêtre Hospital, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

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Olivier Bernard,

Olivier Bernard

Pediatric Hepatology Unit and National Reference Centre for Biliary Atresia, Bicêtre Hospital, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

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Emmanuel Jacquemin,

Corresponding Author

Emmanuel Jacquemin

[email protected]

Pediatric Hepatology Unit and National Reference Centre for Biliary Atresia, Bicêtre Hospital, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

Address correspondence and reprint requests to Emmanuel Jacquemin, MD, PhD, Hépatologie Pédiatrique, Centre Hospitalier Universitaire de Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France (e-mail: [email protected]).Search for more papers by this author

Anne Davit-Spraul,

Anne Davit-Spraul

Biochemistry Laboratory, France

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Christiane Baussan,

Christiane Baussan

Biochemistry Laboratory, France

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Bogdan Hermeziu,

Bogdan Hermeziu

Pediatric Hepatology Unit and National Reference Centre for Biliary Atresia, Bicêtre Hospital, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

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Olivier Bernard,

Olivier Bernard

Pediatric Hepatology Unit and National Reference Centre for Biliary Atresia, Bicêtre Hospital, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

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Emmanuel Jacquemin,

Corresponding Author

Emmanuel Jacquemin

[email protected]

Pediatric Hepatology Unit and National Reference Centre for Biliary Atresia, Bicêtre Hospital, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

First published: 01 January 2008

https://doi.org/10.1097/01.mpg.0000304465.60788.f4

Citations: 78

The authors report no conflicts of interest.

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ABSTRACT

The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher frequency than in control patients. These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome.

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Volume46, Issue1

January 2008

Pages 111-112

CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

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CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

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