Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: A ciliopathy?

Clinical Dysmorphology

Volumn 18, Issue 4, 2009, Pages 209-212

  Alessandri, Jean Luc ^a   Cartault, François ^b   Brayer, Claire ^a   Cuillier, Fabrice ^a   Rivière, Jean Pierre ^c   Ramful, Duksha ^a   Gubler, Marie Claire ^d  

^a Centre de Diagnostic Prénatal   (France)

^b Service de Génétique   (Belgium)

^c Centre Hospitalier Regional Felix Guyon   (France)

^d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; KINESIN; NEPHROCYSTIN 3, HUMAN; NEPHROCYSTIN-3, HUMAN;

ARTICLE; BILE DUCT; BILE DUCT MALFORMATION; BONE BOWING; CASE REPORT; CLINICAL FEATURE; FEMALE; FEMUR; FETUS; FETUS ECHOGRAPHY; GENE MUTATION; HUMAN; INFANT; KIDNEY CYST; KIDNEY DYSPLASIA; MALE; MULTIPLE MALFORMATION SYNDROME; NEONATAL RESPIRATORY DISTRESS SYNDROME; NUCLEOTIDE SEQUENCE; OLIGOHYDRAMNIOS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RENAL CYSTIC DYSPLASIA; REUNION; SIBLING; SITUS INVERSUS; ADULT; BONE DISEASE; CONGENITAL MALFORMATION; EUKARYOTIC FLAGELLUM; FATALITY; GENETICS; KIDNEY POLYCYSTIC DISEASE; PATHOLOGY; PREGNANCY; RADIOGRAPHY;

ADULT; BILE DUCTS; BONE DISEASES; CILIA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; FEMUR; HUMANS; KIDNEY DISEASES, CYSTIC; KINESIN; MALE; PREGNANCY; REUNION; SIBLINGS; SITUS INVERSUS;

EID: 70449713810     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832b1376     Document Type: Article

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