Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome

Ophthalmic Genetics

Volumn 39, Issue 3, 2018, Pages 399-404

  Uyhazi, Katherine E ^a   Binenbaum, Gil ^a,b   Carducci, Nicholas ^a   Zackai, Elaine H ^b   Aleman, Tomas S ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

COH1; Cohen syndrome; retinal degeneration; retinoschisis; VPS13B

Indexed keywords

A WAVE; AFFERENT PUPILLARY DEFECT; ARTICLE; ASTIGMATISM; B WAVE; CASE REPORT; CAUCASIAN; CELL LOSS; CHILD; CHROMOSOME 8Q; CLINICAL ARTICLE; COHEN SYNDROME; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; EXON; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; HOSPITAL ADMISSION; HUMAN; INTRAUTERINE GROWTH RETARDATION; LARYNGOMALACIA; MICROCEPHALY; MICROGNATHIA; MUSCLE HYPOTONIA; MYOPIA; PEDIATRIC INTENSIVE CARE UNIT; PHOTORECEPTOR OUTER SEGMENT; POSTOPERATIVE COMPLICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RETINAL PIGMENT EPITHELIUM; RETINOSCHISIS; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; SYNDROME; ABNORMALITIES; COMPLICATION; DEVELOPMENTAL DISORDER; FINGER; GENE DELETION; GENETICS; INFANT; INTELLECTUAL IMPAIRMENT; METABOLISM; OBESITY; PATHOLOGY; PROGNOSIS; RETINA CONE; RETINA DEGENERATION;

VESICULAR TRANSPORT PROTEIN; VPS13B PROTEIN, HUMAN;

DEVELOPMENTAL DISABILITIES; FEMALE; FINGERS; GENE DELETION; HUMANS; INFANT; INTELLECTUAL DISABILITY; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; OBESITY; PROGNOSIS; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; RETINOSCHISIS; VESICULAR TRANSPORT PROTEINS;

EID: 85045151262     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810.2018.1459735     Document Type: Article

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