Ocular abnormalities in Apert syndrome: Genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations

Journal of AAPOS

Volumn 10, Issue 6, 2006, Pages 521-527

  Jadico, Suzanne K ^a   Young, David A ^b   Huebner, Alexandra ^b   Edmond, Jane C ^b   Pollock, Avrum N ^b   McDonald McGinn, Donna M ^b   Li, Yi Ju ^c   Zackai, Elaine H ^a,b   Young, Terri L ^a,b,c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PROLINE; SERINE; TRYPTOPHAN;

ACROCEPHALOSYNDACTYLY; AMBLYOPIA; ARTICLE; ASTIGMATISM; CLINICAL ARTICLE; DEMOGRAPHY; DISEASE PREDISPOSITION; DISEASE SEVERITY; EYE DISEASE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERMETROPIA; LACRIMAL DUCT OCCLUSION; MALE; MYOPIA; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RECEPTOR GENE; REFRACTION ERROR; RETROSPECTIVE STUDY; SCHOOL CHILD; STRABISMUS; SUPERIOR RECTUS MUSCLE UNDERACTION;

ACROCEPHALOSYNDACTYLIA; ASTIGMATISM; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; REFRACTIVE ERRORS; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; STRABISMUS;

EID: 33845639512     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2006.07.012     Document Type: Article

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