The molecular basis of oral-facial-digital syndrome, type 1

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

Volumn 151, Issue 4, 2009, Pages 318-325

  Marina, Macca ^a   Franco, Brunella ^a,b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

Ciliopathies; OFD1; X linked dominant male lethal

Indexed keywords

SONIC HEDGEHOG PROTEIN; WNT PROTEIN;

DYSOSTOSIS; EUKARYOTIC FLAGELLUM; FINGER MALFORMATION; FRAMESHIFT MUTATION; KIDNEY POLYCYSTIC DISEASE; MALE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVIEW;

ANIMALS; CENTROSOME; CHROMOSOMES, HUMAN, X; CILIA; CILIARY MOTILITY DISORDERS; DISEASE MODELS, ANIMAL; EXONS; GENES, X-LINKED; HUMANS; INTRONS; MALE; MUTATION; OROFACIODIGITAL SYNDROMES; PHENOTYPE; PROTEINS; SIGNAL TRANSDUCTION;

ERINACEIDAE;

EID: 70449672808     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30224     Document Type: Review

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