Short-Rib polydactyly and jeune syndromes are caused by mutations in WDR60

American Journal of Human Genetics

Volumn 93, Issue 3, 2013, Pages 515-523

  McInerney Leo, Aideen M ^a   Schmidts, Miriam ^b   Cortés, Claudio R ^a   Leo, Paul J ^a   Gener, Blanca ^c   Courtney, Andrew D ^a   Gardiner, Brooke ^a   Harris, Jessica A ^a   Lu, Yeping ^b   Marshall, Mhairi ^a   Scambler, Peter J ^b   Beales, Philip L ^b   Brown, Matthew A ^a   Zankl, Andreas ^d   Mitchison, Hannah M ^b   Duncan, Emma L ^a,e   Wicking, Carol ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TRANSCRIPTION FACTOR GLI2;

ARTICLE; AXONEME; CARTILAGE CELL; CENTROSOME; CHONDRODYSPLASIA; CLINICAL FEATURE; CONGENITAL DISORDER; CONTROLLED STUDY; DNA SEQUENCE; EUKARYOTIC FLAGELLUM; EXOME; FIBROBLAST; GENE; GENE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; JEUNE SYNDROME; KINETOSOME; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; WDR60 GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD, PRESCHOOL; CHONDROCYTES; CHROMOSOME SEGREGATION; CILIA; ELLIS-VAN CREVELD SYNDROME; FATAL OUTCOME; FEMALE; FETUS; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PEDIGREE; PREGNANCY; SHORT RIB-POLYDACTYLY SYNDROME;

EID: 84883766759     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.06.022     Document Type: Article

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