New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis

Journal of Cranio-Maxillofacial Surgery

Volumn 29, Issue 1, 2001, Pages 22-24

  Moko, Sheree Bernadette ^a   De Chalain, Tristan Maurice Blandin ^a  

^a MIDDLEMORE HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; FIBROBLAST GROWTH FACTOR RECEPTOR; PROLINE; RESTRICTION ENDONUCLEASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CLINICAL ARTICLE; CRANIOFACIAL SYNOSTOSIS; DATA ANALYSIS; DNA DETERMINATION; DNA SEQUENCE; ETHNIC GROUP; EVALUATION; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENOME; HETEROZYGOSITY; HUMAN; MALE; MOLECULAR BIOLOGY; NEW ZEALAND; PEDIGREE; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0035003467     PISSN: 10105182     EISSN: None     Source Type: Journal    
DOI: 10.1054/jcms.2001.0183     Document Type: Article

References (13)

1. Jackson-Weiss Syndrome: Clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter
2. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
3. Fibroblast growth factors, their receptors and receptor disorders
4. Localization of craniosynostosis Adelaide type to 4p16
5. Craniosynostosis: II coronal synostosis; its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly
6. Genetic study of nonsyndromic coronal craniosynostosis
7. Craniosynostosis: From a clinical description to an understanding of bone formation of the skull
8. Fibroblast growth factor receptor-2 mutations in craniosynostosis
9. Immunolocalization of basic fibroblast growth factor and fibroblast growth factor receptor-1 and receptor-2 in rat cranial sutures
10. Prevalence of pro250arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
11. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
12. Molecular diagnosis of bilateral coronal synostosis
13. Apert syndrome results from localized mutations of FGFR 2 and is allelic with Crouzon syndrome