Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

American Journal of Human Genetics

Volumn 76, Issue 3, 2005, Pages 493-504

  Karmous Benailly, Houda ^a   Martinovic, Jelena ^a   Gubler, Marie Claire ^b   Sirot, Yoann ^a   Clech, Laure ^a   Ozilou, Catherine ^a   Augé, Joëlle ^a   Brahimi, Nora ^a   Etchevers, Heather ^a   Detrait, Eric ^a   Esculpavit, Chantal ^a   Audollent, Sophie ^a   Goudefroye, Géraldine ^a   Gonzales, Marie ^c   Tantau, Julia ^a   Loget, Philippe ^e   Joubert, Madeleine ^f   Gaillard, Dominique ^g   Jeanne Pasquier, Corinne ^h   Delezoide, Anne Lise ^d   Peter, Marie Odile ^j   Plessis, Ghislaine ⁱ   Simon Bouy, Brigitte ^k   Dollfus, Hélène ^l   Le Merrer, Martine ^a   Munnich, Arnold ^a   Encha Razavi, Férechté ^a   Vekemans, Michel ^a   Attié Bitach, Tania ^a,b   more..

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL SAINT ANTOINE   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e Cabinet d'Anat Cytologie P   (France)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g HÔPITAL MAISON BLANCHE   (France)

^h CHU CÔTE DE NACRE   (France)

ⁱ CAEN UNIVERSITY HOSPITAL   (France)

^j CENTRE HOSPITALIER DE MULHOUSE   (France)

^k LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^l UNIVERSITY HOSPITAL OF STRASBOURG   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BARDET BIEDL SYNDROME; BBS1 GENE; BBS2 GENE; BBS3 GENE; BBS4 GENE; BBS5 GENE; BBS6 GENE; BBS7 GENE; BILE DUCT MALFORMATION; CHROMOSOME 11Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DIABETES MELLITUS; ENCEPHALOCELE; FETUS; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENITAL MALFORMATION; HEART DISEASE; HETEROZYGOSITY; HUMAN; HYPOGONADISM; INHERITANCE; KIDNEY DYSFUNCTION; KIDNEY MALFORMATION; KIDNEY POLYCYSTIC DISEASE; LEARNING DISORDER; LIVER FIBROSIS; MECKEL SYNDROME; NEUROLOGIC DISEASE; OBESITY; POLYDACTYLY; PRENATAL PERIOD; PRIORITY JOURNAL; RETINA DYSTROPHY; SYSTEMIC DISEASE;

EID: 13844292417     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/428679     Document Type: Article

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