Craniofacial ciliopathies: A new classification for craniofacial disorders

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 2995-3006

  Brugmann, Samantha A ^a   Cordero, Dwight R ^b   Helms, Jill A ^a  

^a STANFORD UNIVERSITY   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Bardet Biedl; Cranioectodermal dysplasia; Craniofacial; Ellis van Creveld; Frontonasal dysplasia; Joubert syndrome; Meckel Gruber; Oral facial digital; Primary cilia

Indexed keywords

BARDET BIEDL SYNDROME PROTEIN; CELL PROTEIN; ELLIS VAN CREVELD SYNDROME PROTEIN; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 1; INTRAFLAGELLAR TRANSPORT PROTEIN; INTRAFLAGELLAR TRANSPORT PROTEIN 172; INTRAFLAGELLAR TRANSPORT PROTEIN 88; MECKEL GRUBER SYNDROME PROTEIN; MECKEL GRUBER SYNDROME PROTEIN 1; MECKEL GRUBER SYNDROME PROTEIN 2; MECKEL GRUBER SYNDROME PROTEIN 3; OROFACIAL DIGITAL SYNDROME TYPE 1 PROTEIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PLATELET DERIVED GROWTH FACTOR RECEPTOR; POLYCYSTIN; PROTEIN KIF3A; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR SIX2; UNCLASSIFIED DRUG; WNT PROTEIN;

AXONEME; BARDET BIEDL SYNDROME; CILIOPATHY; CRANIOFACIAL MALFORMATION; DISEASE CLASSIFICATION; DYSOSTOSIS; ECTODERMAL DYSPLASIA; ELLIS VAN CREVELD SYNDROME; FACE DISORDER; FRONTONASAL DYSPLASIA; GENE MUTATION; HUMAN; JOUBERT SYNDROME; MECKEL SYNDROME; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; CILIA; CILIARY MOTILITY DISORDERS; CRANIOFACIAL ABNORMALITIES; DISEASE MODELS, ANIMAL; FORECASTING; HUMANS; MUTATION; PHENOTYPE; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR PROTEINS;

EID: 78649649129     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33727     Document Type: Review

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