Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2

Journal of Craniofacial Genetics and Developmental Biology

Volumn 20, Issue 2, 2000, Pages 109-111

  Johnson, D ^a   Wilkie, A O M ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; CLINICAL ARTICLE; EXON; GENE MUTATION; GENOME; HUMAN; HUMAN CELL; LETTER; PHENOTYPE; PRIORITY JOURNAL; SKULL MALFORMATION;

EXONS; FOOT DEFORMITIES; HAND DEFORMITIES; HUMAN; MUTATION; POLYDACTYLY; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, FIBROBLAST GROWTH FACTOR; SYNDROME;

EID: 0033779303     PISSN: 02704145     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (10)

1. Human haploinsufficiency - One for sorrow, two for joy
2. A novel mutation, Ala315Ser, in FGFR2: Gene-environment interaction leading to craniosynostosis?
3. The human fibroblast growth factor receptor genes: A common structural arrangement underlies the mechanism for generating receptor forms that differ in their third immunoglobulin domain
4. K-sam gene encodes secreted as well as transmembrane receptor tyrosine kinase
5. Apparent Apert syndrome with polydactyly: Rare pleiotropic manifestation or new syndrome?
6. Determination of ligand-binding specificity by alternative splicing: Two distinct growth factor receptors encoded by a single gene
7. De novo Alu-element insertions in FGFR 2 identify a distinct pathological basis for Apert syndrome
8. Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain
9. Pfeiffer syndrome caused by haplinsufficient mutation of FGFR2
10. FGFR activation in skeletal disorders: Too much of a good thing