Asphyxiating thoracic dysplasia: Clinical and molecular review of 39 families

Journal of Medical Genetics

Volumn 50, Issue 2, 2013, Pages 91-98

  Baujat, Geneviève ^a   Huber, Céline ^a   El Hokayem, Joyce ^a   Caumes, Roseline ^a   Thanh, Claire Do Ngoc ^b   David, Albert ^c   Delezoide, Anne Lise ^d   Dieux Coeslier, Anne ^e   Estournet, Brigitte ^b   Francannet, Christine ^f   Kayirangwa, Honorine ^a   Lacaille, Florence ^d   Le Bourgeois, Muriel ^d   Martinovic, Jelena ^g   Salomon, Rémi ^d   Sigaudy, Sabine ^h   Malan, Valérie ^a   Munnich, Arnold ^a   Le Merrer, Martine ^a   Sang, Kim Hanh Le Quan ^a   Cormier Daire, Valérie ^a   more..

^a IMAGINE INSTITUTE   (France)

^b RAYMOND POINCARÉ HOSPITAL   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^g UNIVERSITÉ PARIS SACLAY   (France)

^h TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; CYTOPLASMIC DYNEIN; DYNEIN CYTOPLASMIC 2 HEAVY CHAIN 1; INTRAFLAGELLAR TRANSPORT 80; MEMBRANE PROTEIN; TETRATRICOPEPTIDE REPEAT CONTAINING HEDGEHOG MODULATOR 1 PROTEIN; TETRATRICOPEPTIDE REPEAT PROTEIN; UNCLASSIFIED DRUG; WD REPEAT CONTAINING PROTEIN 19;

ADOLESCENT; ADULT; ARTICLE; ASPHYXIA; ASPHYXIATING THORACIC DYSPLASIA; BRACHYDACTYLY; CHILD; CLINICAL EVALUATION; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE ASSOCIATION; FAMILY; FEMALE; FETUS; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INFANT; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LIVER DISEASE; LONG TERM CARE; LUNG INSUFFICIENCY; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MULTICENTER STUDY; PERINATAL PERIOD; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RETINA DISEASE; RISK FACTOR; SCHOOL CHILD; THORAX MALFORMATION; TRACHEOTOMY;

ABORTION, INDUCED; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYTOPLASMIC DYNEINS; ELLIS-VAN CREVELD SYNDROME; FEMALE; FETUS; FRANCE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; ULTRASONOGRAPHY, PRENATAL;

EID: 84873045471     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101282     Document Type: Article

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