molecular pathology of syndromic craniosynostosis

Molecular Medicine Today

Volumn 1, Issue 9, 1995, Pages 432-437

  Reardon, William ^a   Winter, Robin M ^a  

^a Mothercare Unit Pediatric Genetics and Fetal Medicine ^*  (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; CRANIOFACIAL SYNOSTOSIS; GENETIC LINKAGE; GENETICS; HUMAN; MUTATION; REVIEW;

ACROCEPHALOSYNDACTYLIA; CRANIOSYNOSTOSES; HUMANS; LINKAGE (GENETICS); MUTATION; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0029418312     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-4310(95)90837-4     Document Type: Review

References (41)

1. Syndromes of the Head and Neck
2. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
3. Mutations in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome
4. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
5. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
6. Jackson—Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
7. Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre—Chotzen syndrome locus on distal chromosome 7p and exclusion of Jackson—Weiss syndrome from craniosynostosis loci on 7p and 5q
8. GLI3 zinc finger gene interrupted by translocations in Greig syndrome families
9. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
10. Localization of craniosynostosis Adelaide type to 4p16
11. Saethre—Chotzen syndrome
12. Craniosynostosis, midface hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred
13. Six cases of 7p deletion: clinical, cytogenetic and molecular studies
14. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre—Chotzen syndrome to distal chromosome 7p
15. Cytogenetic evidence that the Saethre—Chotzen gene maps to 7p21.2
16. Saethre—Chotzen syndrome with familial translocation at chromosome 7p22
17. Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t (6;7) translocation
18. Saethre—Chotzen syndrome associated with balanced translocations involving 7p21: three further families
19. Greig cephalopolysyndactyly syndrome
20. Chromosomal localization of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p12
21. A mouse model of Greig cephalopolysyndactyly syndrome: the extra-toes mutation contains an intragenic deletion of the Gli3 gene
22. Assignment of a gene locus involved in craniosynostosis to chromosome 5qter
23. Newly recognized autosomal dominant disorder with craniosynostosis
24. Crouzon syndrome is not linked to craniosynostosis loci at 7p21 and 5qter
25. A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10
26. Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity
27. Structural and functional diversity in the FGF receptor multigene family
28. Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene
29. Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR-2)
30. Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
31. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
32. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
33. Thanathophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
34. Stop codon FGFR3 mutations in thanatophoric dwarfism type I
35. FGFR2 mutations in Pfeiffer syndrome
36. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
37. Craniosynostoses: phenotype/molecular correlations
38. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B
39. Substitution of putative half-cystine residues in heparin-binding fibroblast growth factor receptors