Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene

Ophthalmic Genetics

Volumn 30, Issue 1, 2009, Pages 45-49

  Villanueva Mendoza, Cristina ^a,c   Martínez Guzmán, Oswaldo ^a   Rivera Parra, David ^b   Zenteno, Juan Carlos ^b  

^a Asociacion para Evitar la Ceguera en Mexico IAP   (Mexico)

^b INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^c Institute of Ophthalmology Conde de Valenciana ^*  (Mexico)

Author keywords

Achalasia; Alacrima; Allgrove; Optic atrophy; Triple A

Indexed keywords

DNA; NUCLEOTIDE;

AAAS GENE; ALLGROVE SYNDROME; ARTICLE; CASE REPORT; CHILD; CONJUNCTIVAL HYPEREMIA; EXON; EYE MALFORMATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; HOMOZYGOSITY; HUMAN; INTRON; KERATOPATHY; LACRIMATION; LACRIMATION DISORDER; MALE; OPTIC NERVE ATROPHY; PARENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY;

ADRENAL INSUFFICIENCY; CHILD; CONSANGUINITY; ESOPHAGEAL ACHALASIA; EVOKED POTENTIALS, VISUAL; EXONS; HUMANS; LACRIMAL APPARATUS DISEASES; MALE; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS; OPTIC ATROPHY; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 61649084955     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802502962     Document Type: Article

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