A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia

European Journal of Human Genetics

Volumn 22, Issue 3, 2014, Pages 423-426

  Rivera, B ^a   Perea, J ^b   Sanchez E ^c   Villapun M ^c   Sanchez Tome E ^a   Mercadillo, F ^a   Robledo, M ^a,d   Benitez J ^a,d   Urioste, M ^a,d  

^a Structural Biology and Biocomputing Programme   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c Sanatorio Ntra Sra del Rosario   (Spain)

^d CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

Author keywords

AXIN2 mutation; ectodermal dysplasia; familal adenomatous polyposis; oligodontia; Wnt pathway

Indexed keywords

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADULT; AGED; AGED, 80 AND OVER; AXIN PROTEIN; BETA CATENIN; CASE-CONTROL STUDIES; DNA GLYCOSYLASES; ECTODERMAL DYSPLASIA; FEMALE; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; TOOTH ABNORMALITIES;

EID: 84894371784     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.146     Document Type: Article

References (10)

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