Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: A case report

BMC Ophthalmology

Volumn 4, Issue , 2004, Pages 1-7

  Brooks, Brian P ^a,b   Kleta, Robert ^a   Caruso, Rafael C ^b   Stuart, Caroline ^a   Ludlow, Jonathan ^c   Stratakis, Constantine A ^d  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c North Country Medical Eye Care   (United States)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLGROVE SYNDROME; ARTICLE; AUTONOMIC DYSFUNCTION; BLEPHAROSPASM; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; DRY EYE; EXON; GENE DELETION; HETEROZYGOSITY; HUMAN; HYPERSENSITIVITY REACTION; KERATOPATHY; LACRIMAL GLAND; MALE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; SCHOOL CHILD;

EID: 4544262205     PISSN: 14712415     EISSN: 14712415     Source Type: Journal    
DOI: 10.1186/1471-2415-4-7     Document Type: Article

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