Mutations in GRIP1 cause Fraser syndrome

Journal of Medical Genetics

Volumn 49, Issue 5, 2012, Pages 303-306

  Vogel, Maartje J ^a   van Zon, Patrick ^a   Brueton, Louise ^b   Gijzen, Marleen ^a   van Tuil, Marc C ^a   Cox, Phillip ^b   Schanze, Denny ^c   Kariminejad, Ariana ^d   Ghaderi Sohi, Siavash ^d   Blair, Edward ^e   Zenker, Martin ^c   Scambler, Peter J ^f   van Amstel, Hans Kristian Ploos ^a   van Haelst, Mieke M ^a,g  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^d Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^e OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FETUS; FRAMESHIFT MUTATION; FRASER SYNDROME; FREM2 GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MALE; NUCLEAR RECEPTOR COACTIVATOR 2 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

CARRIER PROTEINS; CONSANGUINITY; FEMALE; FETUS; FRAMESHIFT MUTATION; FRASER SYNDROME; GENETIC DISEASES, INBORN; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; PREGNANCY;

MURINAE; MUS;

EID: 84864114125     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100590     Document Type: Article

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