A new autosomal recessive syndrome consisting of pasterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation

Molecular Vision

Volumn 12, Issue , 2006, Pages 1483-1489

  Ayala Ramirez, Raul ^a   Graue Wiechers, Federico ^a   Robredo, Violeta ^a   Amato Almanza, Monica ^a   Horta Diez, Iliana ^b   Zenteno, Juan Carlos ^a  

^a Institute of Ophthalmology   (Mexico)

^b NATIONAL INSTITUTE OF NEUROLOGY AND NEUROSURGERY   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

CEH10 HOMEODOMAIN CONTAINING HOMOLOG PROTEIN; FRIZZLED PROTEIN; GENOMIC DNA; HOMEODOMAIN PROTEIN; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CLINICAL ARTICLE; CONTROLLED STUDY; ECHOGRAPHY; ELECTRORETINOGRAPHY; EXON; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HYPERMETROPIA; MALE; MICROPHTHALMIA; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; OPTIC DISK ANOMALY; OPTICAL COHERENCE TOMOGRAPHY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RETINOSCHISIS; SIBLING; VISUAL SYSTEM EXAMINATION;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; FEMALE; FLUORESCEIN ANGIOGRAPHY; FOVEA CENTRALIS; FUNDUS OCULI; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE PROTEINS; MICROPHTHALMOS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC DISK DRUSEN; RETINAL DISEASES; RETINITIS PIGMENTOSA; SYNDROME; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 33845733173     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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