Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis [4]

Journal of Medical Genetics

Volumn 36, Issue 6, 1999, Pages 499-500

  Steinberger, D ^a   Muller, U ^a   Junger, T H ^a   Howaldt, H P ^a   Christophis, P ^a  

^a Institut fur Humangenetik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DNA; FIBROBLAST GROWTH FACTOR 2; PHENYLALANINE;

AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CELL FUNCTION; CEREBROSPINAL FLUID; DEVELOPMENTAL GENETICS; DISEASE ASSOCIATION; DNA DETERMINATION; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; LETTER; NUCLEAR MAGNETIC RESONANCE IMAGING; PANSYNOSTOSIS; PATERNITY; PHENOTYPE; PHYSIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; SKULL MALFORMATION; SPINA BIFIDA; START CODON;

EID: 0033067266     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (15)