Mutation update on the CHD7 gene involved in CHARGE syndrome

Human Mutation

Volumn 33, Issue 8, 2012, Pages 1149-1160

  Janssen, Nicole ^a   Bergman, Jorieke E H ^a   Swertz, Morris A ^a,b   Tranebjaerg, Lisbeth ^c,d   Lodahl, Marianne ^c   Schoots, Jeroen ^e   Hofstra, Robert M W ^f   Van Ravenswaaij Arts, Conny M A ^a   Hoefsloot, Lies H ^e  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d BISPEBJERG HOSPITAL   (Denmark)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

CHARGE syndrome; CHD7; CHD7 database; Kallmann syndrome; Mutation spectrum

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; BRG1 PROTEIN; CHD7 PROTEIN; FIBROBLAST GROWTH FACTOR 10; FIBROBLAST GROWTH FACTOR RECEPTOR 1; JAGGED1; NEUROGENIN 1; PROTEIN; RIBOSOME RNA; TRANSCRIPTION FACTOR GLI2; TRANSCRIPTION FACTOR GLI3; TRANSCRIPTION FACTOR HES 5; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

ANOSMIA; CELL DIFFERENTIATION; CELL MIGRATION; CELL PROLIFERATION; CHD7 GENE; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME 8Q; CHROMOSOME TRANSLOCATION; CONGENITAL HEART DISEASE; CRYPTORCHISM; DNA POLYMORPHISM; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENE TRANSLOCATION; GENETIC VARIABILITY; HUMAN; LOSS OF FUNCTION MUTATION; MOSAICISM; MYOPIA; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; RNA SPLICING; SYNDROME CHARGE;

ANIMALS; CHARGE SYNDROME; DNA HELICASES; DNA-BINDING PROTEINS; HUMANS; MUTATION;

ANIMALIA;

EID: 84863872703     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22086     Document Type: Review

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