Osteoglophonic dysplasia: A 'common' mutation in a rare disease

Clinical Genetics

Volumn 78, Issue 2, 2010, Pages 197-198

  Sow, A J ^a   Ramli, R ^a   Latiff, Z A ^b   Ichikawa, S ^c   Gray, A K ^c   Nordin, R ^a   Abd Jabar, M N ^a   Primuharsa Putra, S H A ^d   Siar, C H ^e   Econs, M J ^c  

^a UNIVERSITI KEBANGSAAN MALAYSIA MEDICAL CENTER   (Malaysia)

^b Malaysia Medical Centre ^*  (Malaysia)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Seremban Hospital   (Malaysia)

^e UNIVERSITY OF MALAYA   (Malaysia)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1 PROTEIN, HUMAN;

BONE DYSPLASIA; CASE REPORT; CHILD; CHINESE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DWARFISM; GENE MUTATION; HUMAN; HYPERTELORISM; LETTER; MALE; NUCLEOTIDE SEQUENCE; OSTEOGLOPHONIC DYSPLASIA; PRIORITY JOURNAL; PROTEIN DOMAIN; RARE DISEASE; SCHOOL CHILD; VERTICAL STRABISMUS; ADOLESCENT; EXON; FACIES; FEMALE; GENETICS; HETEROZYGOTE; MOLECULAR GENETICS; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DWARFISM; EXONS; FACIES; FEMALE; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1;

EID: 80053384705     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01382.x     Document Type: Letter

References (4)

1. White KE, Cabral JM, Davis SI et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR 1 in bone elongation. Am J Hum Genet 2005: 76: 361-367.
2. Farrow EG, Davis SI, Mooney SD et al. Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. Am J Med Genet 2006: 140A: 537-539.
3. Beighton P, Cremin BJ, Kozlowski K. Osteoglophonic dwarfism. Pediatr Radiol 1980: 10: 46-50.
4. Roberts TS, Stephen L, Beighton P. Osteoglophonic dysplasia: dental and orthodontic implications. Orthod Craniofacial Res 2006: 9: 153-156.