Firstde novomutation inRPS19gene as the cause of hydrops fetalis in Diamond-Blackfan anemia

Author:

Da Costa Lydie,Chanoz-Poulard Geneviève1,Simansour Maud2,French Martine3,Bouvier Raymonde4,Prieur Fabienne5,Couque Nathalie6,Delezoide Anne Lise7,Leblanc Thierry8,Mohandas Narla9,Touraine Renaud5

Affiliation:

1. Laboratoire d'Anatomie et Cytologie Pathologique; CHG de Roanne; F-42300; France

2. AP-HP, Service d'Hématologie Biologique; Hôpital R. Debré; Paris; F-75019; France

3. Laboratoire d'Hématologie, centre de Biologie Sud; CHU de Lyon; F-69000; France

4. Centre de Pathologie Est; CHU de Lyon; F-69000; France

5. Service de Génétique, CHU-Hôpital Nord; Saint-Etienne; F-42000; France

6. Service de Biochimie génétique, Hôpital R. Debré; Paris; F-75019; France

7. Service de Biologie du Développement, Hôpital R. Debré; F-75019; France

8. AP-HP, Service d'Onco-Hématologie pédiatrique, Hôpital R. Debré; Paris; F-75019; France

9. New York Blood Center; New-York

Publisher

Wiley

Subject

Hematology

Reference6 articles.

1. Diamond-Blackfan anemia as an unusual cause of nonimmune hydrops fetalis: A case report;Hook;J Reprod Med,1995

2. Prenatal diagnosis of Blackfan-Diamond syndrome: Case report and review of the literature;McLennan;Prenat Diagn,1996

3. Autosomal dominantly inherited Diamond-Blackfan anemia resulting in nonimmune hydrops;Rogers;Obstet Gynecol,1997

4. Diamond-Blackfan syndrome: An unusual cause of hydrops fetalis;Scimeca;Am J Pediatr Hematol Oncol,1988

5. Fetal Diamond-Blackfan anemia associated with hydrops fetalis;Dunbar;Am J Perinatol,2003

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