Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus

Human Genetics

Volumn 110, Issue 5, 2002, Pages 510-512

  Mackey, David A ^b   Chan, Wai Man ^a   Chan, Christopher ^b   Gillies, W E ^b   Brooks, Anne M V ^b   O'Day, Justin ^b   Engle, Elizabeth C ^a,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 16Q; CHROMOSOME NUMBER; CLINICAL ARTICLE; CONGENITAL EXTRAOCULAR FIBROSIS; CONGENITAL STRABISMUS; CONVERGENT STRABISMUS; DATA BASE; DIVERGENT STRABISMUS; EXTRAOCULAR MUSCLE; FAMILY; GENE LOCUS; GENE MAPPING; GENOTYPE; HUMAN; INHERITANCE; INTERNET; MARKER CHROMOSOME; MUSCLE INNERVATION; OCULAR FIBROSIS; OCULOMOTOR NERVE; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SCORING SYSTEM; TROCHLEAR NERVE;

CHROMOSOMES, HUMAN, PAIR 16; EYE DISEASES; FEMALE; FIBROSIS; HUMANS; LOD SCORE; MALE; OCULOMOTOR MUSCLES; PEDIGREE;

EID: 0036590031     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0707-5     Document Type: Article

References (8)

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2. Engle EC, Marondel I, Houtman WA, De Vries B, Lowenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH (1995) Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet 57:1086-1094
3. Engle EC, Goumernov B, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH (1997) Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 41:314-325
4. Gillies W, Harris A, Brooks A, Rivers M, Wolfe R (1995) Congenital fibrosis of the vertically acting extraocular muscles: A new group of dominantly inherited ocular fibrosis with radiologic findings. Ophthalmology 102:607-612
5. Guo S, Brush J, Teraoka H, Goddard A, Wilson SW, Mullins MC, Rosenthal A (1999) Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeo-domain protein soulless/Phox2a. Neuron 24:555-566
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7. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF (1997) Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development 124:4065-4075
8. Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC (2000) New clinical variation of a fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophthalmol 118:1090-1097