Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature

Ophthalmic Genetics

Volumn 27, Issue 3, 2006, Pages 79-82

  Khan, Arif O ^a   Alam, Syed K ^b   Aldahmesh, Mohammed ^c   Rajab, Mohammed ^c   Meyer, Brian ^c  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b Najran General Hospital   (Saudi Arabia)

^c KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

3q deletion; Blepharophimosis; Coloboma; Esotropia; FOXL2

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHROMOSOME 3Q; CLINICAL EXAMINATION; CLINICAL FEATURE; COLOBOMA; CONFIDENCE INTERVAL; CONVERGENT STRABISMUS; FAMILIAL BLEPHAROPHIMOSIS LIKE SYNDROME; FAMILIAL DISEASE; FEMALE; FOXL2 GENE; GENE; GENE DELETION; GENE DISRUPTION; GENE FUNCTION; HUMAN; LINKAGE ANALYSIS; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; UVEA COLOBOMA;

BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; COLOBOMA; DNA MUTATIONAL ANALYSIS; ESOTROPIA; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENES, RECESSIVE; GENOTYPE; GROWTH DISORDERS; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; POLYMERASE CHAIN REACTION; SYNDROME; UVEA;

EID: 33749520489     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810600862501     Document Type: Article

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