FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation

American Journal of Medical Genetics

Volumn 66, Issue 1, 1996, Pages 81-86

  Steinberger, Daniela ^a   Reinhartz, Thomas ^b   Unsöld, Renate ^b   Müller, Ulrich ^a,c  

^a Institut fur Humangenetik   (Germany)

^b Institut für Humangenetik ^*  (Germany)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

brachycephaly; craniosynostosis; dolichocephaly; FGFR2 mutation; maxillary hypoplasia

Indexed keywords

ALANINE; DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; X RAY ANALYSIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0029957404     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961202)66:1<81::AID-AJMG19>3.0.CO;2-M     Document Type: Article

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