A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly

Journal of Medical Genetics

Volumn 34, Issue 5, 1997, Pages 420-422

  Steinberger, Daniela ^a   Collmann, Hartmut ^b   Schmalenberger, Bernhard ^c   Müller, Ulrich ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c NONE   (Germany)

Author keywords

Craniosynostosis; Crouzon syndrome; FGFR2; Plagiocephaly

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; GLUTAMIC ACID; LYSINE;

ADULT; ARTICLE; CLINICAL ARTICLE; CROUZON SYNDROME; ENVIRONMENTAL FACTOR; EXON; FEMALE; GENE MUTATION; HEREDITY; HUMAN; HUMAN CELL; INFANT; MALE; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; PHENOTYPE; PLAGIOCEPHALY; PRIORITY JOURNAL; RECEPTOR GENE; SCHOOL CHILD; SEQUENCE ANALYSIS;

EID: 0030976827     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.5.420     Document Type: Article

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