Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

American Journal of Medical Genetics

Volumn 85, Issue 2, 1999, Pages 160-170

  Okajima, Kazuki ^a,f   Robinson, Luther K ^b   Hart, Meeghan A ^b   Abuelo, Dianne N ^c   Cowan, Linda S ^d   Hasegawa, Tomoko ^e   Maumenee, Irene H ^f   Jabs, Ethylin Wang ^f  

^a NAGOYA CITY UNIV MEDICAL SCHOOL   (Japan)

^b UNIVERSITY AT BUFFALO   (United States)

^c RHODE ISLAND HOSPITAL   (United States)

^d CHILDREN S HOSPITAL LOS ANGELES   (United States)

^e SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Antley Bixler syndrome; Craniosynostosis; Crouzon syndrome; Eye; Fibroblast growth factor receptor; Limb; Mutation; Peters anomaly; Pfeiffer syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ANTERIOR EYE CHAMBER DISEASE; ARTICLE; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; EXOPHTHALMOS; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HYPERTELORISM; INFECTIOUS MONONUCLEOSIS; MALE; NEWBORN; PETERS ANOMALY; PRIORITY JOURNAL; SEIZURE; SKULL DEFECT; STRABISMUS;

ACROCEPHALOSYNDACTYLIA; ANTERIOR CHAMBER; CRANIOSYNOSTOSES; DIAGNOSIS, DIFFERENTIAL; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PHENOTYPE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SKULL; SYNDROME;

EID: 0033062244     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990716)85:2<160::AID-AJMG11>3.0.CO;2-R     Document Type: Article

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