Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

American Journal of Human Genetics

Volumn 97, Issue 2, 2015, Pages 311-318

  Alby, Caroline ^a,b   Piquand, Kevin ^a   Huber, Céline ^a   Megarbané, André ^c   Ichkou, Amale ^a,b   Legendre, Marine ^d   Pelluard, Fanny ^e   Encha Ravazi, Ferechté ^a,b   Abi Tayeh, Georges ^f   Bessières, Bettina ^b   El Chehadeh Djebbar, Salima ^g   Laurent, Nicole ^g   Faivre, Laurence ^g   Sztriha, László ^h   Zombor, Melinda ^h   Szabó, Hajnalka ^h   Failler, Marion ^a   Garfa Traore, Meriem ⁱ   Bole, Christine ⁱ   Nitschké, Patrick ⁱ   Nizon, Mathilde ^a,b   Elkhartoufi, Nadia ^a,b   Clerget Darpoux, Françoise ^a   Munnich, Arnold ^a,b   Lyonnet, Stanislas ^a,b   Vekemans, Michel ^a,b   Saunier, Sophie ^a   Cormier Daire, Valérie ^a,b   Attié Bitach, Tania ^a,b   Thomas, Sophie ^a   more..

^a IMAGINE INSTITUTE   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d POITIERS UNIVERSITY HOSPITAL   (France)

^e HÔPITAL PELLEGRIN   (France)

^f SAINT JOSEPH UNIVERSITY   (Lebanon)

^g UNIVERSITÉ DE BOURGOGNE   (France)

^h UNIVERSITY OF SZEGED   (Hungary)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; CELL CYCLE PROTEIN; STOP CODON; TALPID3 PROTEIN, HUMAN;

ARTICLE; BIOGENESIS; CASE REPORT; CHONDRODYSPLASIA; CLEFT PALATE; CONGENITAL MALFORMATION; CONTROLLED STUDY; EXOME; FEMALE; FETUS; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; HYDROLETHALUS SYNDROME; LETHAL CILIOPATHIES; MALE; NEWBORN; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION; CILIARY DYSKINESIA; CONGENITAL HEART MALFORMATION; DNA SEQUENCE; EASTERN EUROPE; FATALITY; FOUNDER EFFECT; GENETICS; HAND MALFORMATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; STATISTICAL MODEL; STOP CODON;

ANIMALIA; ERINACEIDAE;

BASE SEQUENCE; CELL CYCLE PROTEINS; CILIARY MOTILITY DISORDERS; CODON, NONSENSE; EUROPE, EASTERN; FATAL OUTCOME; FOUNDER EFFECT; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; HYDROCEPHALUS; LIKELIHOOD FUNCTIONS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SHORT RIB-POLYDACTYLY SYNDROME;

EID: 84938991438     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.06.003     Document Type: Article

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