Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib

Ophthalmic Genetics

Volumn 38, Issue 6, 2017, Pages 544-548

  Mameesh, Maha ^a   Ganesh, Anuradha ^a   Harikrishna, Beena ^a   Al Zuhaibi, Sana ^a   Scott, Patrick ^a   Al Kalbani, Sami ^a   Al Thihli, Khalid ^a  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

Author keywords

Coinheritance; foveoschisis; glycogen storage disease 1b; MFRP gene; posterior microphthalmos; retinitis pigmentosa

Indexed keywords

EDETIC ACID; FRIZZLED PROTEIN; ANTIPORTER; GLUCOSE TRANSPORTER; MEMBRANE PROTEIN; MFRP PROTEIN, HUMAN; SLC37A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEST CORRECTED VISUAL ACUITY; CASE REPORT; CHROMOSOME 11Q; CLINICAL ARTICLE; DARK ADAPTATION; DISEASE COURSE; DRUSEN; ELECTRORETINOGRAPHY; FATTY LIVER; FEMALE; FLUORESCENCE ANGIOGRAPHY; FOVEOSCHISIS; GENE LOCATION; GENE MUTATION; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 1B; HAPLOTYPE; HEPATOMEGALY; HUMAN; HYPERMETROPIA; MALE; MICROPHTHALMIA; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; RETINA FOVEA; RETINITIS PIGMENTOSA; RETINOPATHY; SEQUENCE ANALYSIS; SHORT STATURE; SIBLING; VISUAL IMPAIRMENT; YOUNG ADULT; CHROMOSOME 11; CONSANGUINITY; EYE DISEASE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 1; MUTATION; OPTIC DISK ANOMALY; PEDIGREE; PHYSIOLOGY; RECESSIVE GENE; RETINOSCHISIS; VISUAL ACUITY;

ADOLESCENT; ANTIPORTERS; CHROMOSOMES, HUMAN, PAIR 11; CONSANGUINITY; ELECTRORETINOGRAPHY; EYE DISEASES; FEMALE; GENES, RECESSIVE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MALE; MEMBRANE PROTEINS; MICROPHTHALMOS; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; OPTIC DISK DRUSEN; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; RETINOSCHISIS; SIBLINGS; VISUAL ACUITY;

EID: 85019254042     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810.2017.1323340     Document Type: Article

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