Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?
Alessandri
Jean-Luc
JL
Centre de Diagnostic Prénatal, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France. alessandri@chd-fguyon.fr
Cartault
François
F
Brayer
Claire
C
Cuillier
Fabrice
F
Rivière
Jean-Pierre
JP
Ramful
Duksha
D
Gubler
Marie-Claire
MC
D000328:Adult; D001652:Bile Ducts / Q000002:abnormalities*; D001847:Bone Diseases / Q000150:complications* / Q000151:congenital; D002923:Cilia / Q000473:pathology*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications* / Q000473:pathology*; D016547:Kinesins / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011859:Radiography; D017508:Reunion; D035781:Siblings; D012857:Situs Inversus / Q000150:complications* / Q000473:pathology
C528697:nephrocystin-3, human; D016547:Kinesins