Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to Hedgehog ligands

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

Volumn 151, Issue 4, 2009, Pages 341-351

  Ruiz Perez, Victor L ^a   Goodship, Judith A ^b,c  

^a INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Ellis van Creveld syndrome; EVC; EVC2; Hedgehog; Weyers acrodental dysostosis

Indexed keywords

SONIC HEDGEHOG PROTEIN;

DYSOSTOSIS; ELLIS VAN CREVELD SYNDROME; EUKARYOTIC FLAGELLUM; EXON; GENE CLUSTER; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REVIEW;

ANIMALS; CILIA; DYSOSTOSES; ELLIS-VAN CREVELD SYNDROME; EXONS; FEMALE; GENES, RECESSIVE; GENOTYPE; HEDGEHOG PROTEINS; HUMANS; LIGANDS; MALE; MICE; MODELS, BIOLOGICAL; MUTATION; PHENOTYPE;

ERINACEIDAE; MURINAE;

EID: 70449672809     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30226     Document Type: Review

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