Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

American Journal of Medical Genetics, Part A

Volumn 143, Issue 11, 2007, Pages 1218-1222

  Trzupek, Karmen M ^a,d   Falk, Rena E ^b   Demer, Joseph L ^c   Weleber, Richard G ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

^d or 97239 4197   (United States)

Author keywords

Chorioretinal dysplasia; Chorioretinopathy; Lymphedema; Microcephaly; Retinal dystrophy

Indexed keywords

ARTICLE; CASE REPORT; CATARACT; CHORIORETINOPATHY; CHOROID DISEASE; ELECTRORETINOGRAM; FEMALE; GLAUCOMA; HUMAN; LYMPHEDEMA; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOSAICISM; MUSCLE HYPOTONIA; NIGHT VISION; PHENOTYPE; PHOTOPIC VISION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DETACHMENT; RETINA MALFORMATION; SCHOOL CHILD; VITREORETINOPATHY;

EID: 34249875684     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31717     Document Type: Article

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