New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey

Journal of Medical Genetics

Volumn 36, Issue 6, 1999, Pages 437-446

  Beales, P L ^a   Elcioglu, N ^b   Woolf, A S ^c   Parker, D ^d   Flinter, F A ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b ISTANBUL UNIVERSITY   (Turkey)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^d Spring Grove   (United Kingdom)

Author keywords

Bardet Biedl syndrome; Diagnosis; Heterozygotes; Renal malformation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BARDET BIEDL SYNDROME; BEHAVIOR DISORDER; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; EARLY DIAGNOSIS; FACE DYSMORPHIA; FACIES; FAMILIAL INCIDENCE; FEMALE; GENE EXPRESSION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPOGONADISM; KIDNEY CARCINOMA; KIDNEY MALFORMATION; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; OBESITY; PHENOTYPE; POLYDACTYLY; POPULATION RESEARCH; PRIORITY JOURNAL; QUESTIONNAIRE; RELATIVE; RETINA DEGENERATION; RETINA ROD; SPEECH DISORDER; STATISTICAL ANALYSIS; TOOTH DISEASE; VISUAL DISORDER;

EID: 0033062278     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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