Bardet-Biedl syndrome in an African-American patient: Should the diagnostic criteria be expanded to include hydrometrocolpos?

Ophthalmic Genetics

Volumn 28, Issue 2, 2007, Pages 95-99

  Toma, Hassanain S ^a   Tan, Perciliz L ^b   McKusick, Victor A ^b   Katsanis, Nicholas ^a,b   Adams, N A ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Bardet Biedl syndrome; Genetic testing; Hydrometrocolpos; Retinitis pigmentosa

Indexed keywords

BARDET BIEDL SYNDROME PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; AFRICAN AMERICAN; ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; ELECTROPHYSIOLOGY; ENCEPHALOMALACIA; FEMALE; HIRSCHSPRUNG DISEASE; HUMAN; HYDROMETROCOLPOS; HYPERTENSION; HYPOGONADISM; KIDNEY CYST; LEARNING DISORDER; MC KUSICK KAUFMAN SYNDROME; NEUROIMAGING; NEUROLOGIC DISEASE; OBESITY; POLYDACTYLY; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AFRICAN AMERICANS; BARDET-BIEDL SYNDROME; FEMALE; HUMANS; HYDROCOLPOS; MAGNETIC RESONANCE IMAGING; POLYDACTYLY;

EID: 34250204941     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701209545     Document Type: Article

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