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4 in total

1. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Authors: Houda Karmous-Benailly; Jelena Martinovic; Marie-Claire Gubler; Yoann Sirot; Laure Clech; Catherine Ozilou; Joëlle Auge; Nora Brahimi; Heather Etchevers; Eric Detrait; Chantal Esculpavit; Sophie Audollent; Géraldine Goudefroye; Marie Gonzales; Julia Tantau; Philippe Loget; Madeleine Joubert; Dominique Gaillard; Corinne Jeanne-Pasquier; Anne-Lise Delezoide; Marie-Odile Peter; Ghislaine Plessis; Brigitte Simon-Bouy; Hélène Dollfus; Martine Le Merrer; Arnold Munnich; Férechté Encha-Razavi; Michel Vekemans; Tania Attié-Bitach
Journal: Am J Hum Genet Date: 2005-01-21 Impact factor: 11.025

Familial renal dysplasia. Microdissection studies in siblings with associated central nervous system and hepatic malformations.

1. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

2. Defect of cerebellar Purkinje cell histogenesis associated with type I and type II renal cystic disease.

3. Renal dysplasia with multisystem malformation--a study of 9 cases.

4. Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.