Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3

Ophthalmic Genetics

Volumn 31, Issue 4, 2010, Pages 178-182

  Mukkamala, Krishna ^a   Gentile, Ronald C ^a   Willner, Judith ^b   Tsang, Stephen ^c  

^a NEW YORK MEDICAL COLLEGE   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c Edward S Harkness Eye Institute   (United States)

Author keywords

CHM; choroideremia; chromosomal translocation; ectodermal dysplasia; EDA

Indexed keywords

ADULT; ANHIDROSIS; ARTICLE; BLOOD; CASE REPORT; CHOROIDEREMIA; CHROMOSOME 1; CHROMOSOME 3; CORNEA; CYTOGENETICS; DENTURE; ECTODERMAL DYSPLASIA; ELECTRORETINOGRAPHY; EYE EXAMINATION; EYE FUNDUS; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE TRANSLOCATION; HUMAN; HYPOPLASIA; HYPOTRICHOSIS; MEIBOMIAN GLAND; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN; TEAR FILM; VISUAL ACUITY; VISUAL FIELD; X CHROMOSOME;

ADULT; CHOROIDEREMIA; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, X; ECTODERMAL DYSPLASIA; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; HYPOHIDROSIS; HYPOTRICHOSIS; KARYOTYPING; MEIBOMIAN GLANDS; TRANSLOCATION, GENETIC; VISUAL FIELD TESTS; X CHROMOSOME INACTIVATION;

MEIBOMIA;

EID: 78649233393     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.497529     Document Type: Article

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