The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks syndrome)

Ophthalmic Genetics

Volumn 29, Issue 4, 2008, Pages 177-180

  Barry, John S ^a   Reddy, M Ashwin ^a  

^a ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

Duane syndrome; Epibulbar Dermoid; SALL1; SALL4; Townes Brocks syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CROCODILE TEAR SYNDROME; DUANE RETRACTION SYNDROME; EPIBULBAR DERMOID; EYE EXAMINATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; LACRIMATION DISORDER; MALE; MUTAGENESIS; PATHOGENESIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SALL1 GENE; TERATOMA; TOWNES BROCKS SYNDROME; ANUS ATRESIA; CONGENITAL HYPOTHYROIDISM; CONGENITAL MALFORMATION; EAR; EYELID TUMOR; GENETICS; HAND MALFORMATION; INFANT; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; SYNDROME;

SALL1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; CONGENITAL HYPOTHYROIDISM; DERMOID CYST; DUANE RETRACTION SYNDROME; EAR; EYELID NEOPLASMS; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; MALE; MUTATION; SYNDROME; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 56149088717     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802354224     Document Type: Article

References (9)

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