Ciliary disorder of the skeleton

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 3, 2012, Pages 165-174

  Huber, Celine ^a   Cormier Daire, Valerie ^a  

^a IMAGINE INSTITUTE   (France)

Author keywords

Ciliopathy; Skeletal disorders

Indexed keywords

DYNEIN CYTOPLASMIC 2 HEAVY CHAIN 1 PROTEIN; INTRAFLAGELLAR TRANSPORT 122 PROTEIN; INTRAFLAGELLAR TRANSPORT 43 PROTEIN; INTRAFLAGELLAR TRANSPORT 80 PROTEIN; NEVER IN MITOSIS A RELATED KINASE 1; PROTEIN; PROTEIN SERINE THREONINE KINASE; SONIC HEDGEHOG PROTEIN; TETRATRICOPEPTIDE REPEAT DOMAIN 21B PROTEIN; UNCLASSIFIED DRUG; WD REPEAT DOMAIN 19 PROTEIN; WD REPEAT DOMAIN 35 PROTEIN;

BEEMER LANGER SYNDROME; BONE DEVELOPMENT; BONE DISEASE; BONE DYSPLASIA; BONE RADIOGRAPHY; CAVALLAZZI SYNDROME; CILIARY MOTILITY; CILIOPATHY; CLINICAL FEATURE; CRANIOECTODERMAL DYSPLASIA; DYNC2H1 GENE; ELLIS VAN CREVELD SYNDROME; EVC GENE; EVC2 GENE; GENE; GENE MUTATION; HUMAN; IFT122 GENE; IFT43 GENE; IFT80 GENE; JEUNE SYNDROME; MAJEWSKI SYNDROME; NEK1 GENE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SHORT RIB POLYDACTYLY TYPE III; SHORT RIB POLYDACTYLY TYPE V; SIGNAL TRANSDUCTION; TRANSCRIPTION INITIATION SITE; TTC21B GENE; VERMA NAUMOFF SYNDROME; WDR19 GENE; WDR35 GENE; WEYERS ACROFACIAL DYSOSTOSIS;

BONE AND BONES; BONE DISEASES; CILIA; HUMANS; PROTEINS; SYNDROME;

ERINACEIDAE;

EID: 84864075404     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31336     Document Type: Review

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