Rare mutations of FGFR2 causing apert syndrome: Identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Human Mutation

Volumn 30, Issue 2, 2009, Pages 204-211

  Bochukova, Elena G ^a   Roscioli, Tony ^b,c   Hedges, Dale J ^d   Taylor, Indira B ^a   Johnson, David ^e   David, David J ^f   Deininger, Prescott L ^d   Wilkie, Andrew O M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b PRINCE OF WALES HOSPITAL   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^d TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^f WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Alternative splicing; Alu insertion; Apert syndrome; AS; FGFR2

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; ADULT; ALTERNATIVE RNA SPLICING; ALU SEQUENCE; ARTICLE; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; EXON; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; HUMAN; INTRON; MALE; MESENCHYME; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ACROCEPHALOSYNDACTYLIA; ADOLESCENT; ADULT; ALU ELEMENTS; BASE PAIRING; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FATHERS; GENE DELETION; GENOME, HUMAN; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;

EID: 59749092295     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20825     Document Type: Article

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