Genetics of human Bardet–Biedl syndrome, an updates

Clinical Genetics

Volumn 90, Issue 1, 2016, Pages 3-15

  Khan, S A ^a   Muhammad, N ^a   Khan, M A ^b,c   Kamal, A ^a   Rehman, Z U ^a   Khan, S ^a,c  

^a KOHAT UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Pakistan)

^b GOMAL UNIVERSITY   (Pakistan)

^c Interim Translational Research Institute   (Qatar)

Author keywords

Bardet Biedl syndrome; clinical spectrum; disease causing mutations; genes

Indexed keywords

BARDET BIEDL SYNDROME; BEHAVIOR DISORDER; CARDIOVASCULAR DISEASE; CARDIOVASCULAR MALFORMATION; CLINICAL FEATURE; COGNITIVE DEFECT; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DIABETES MELLITUS; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HEARING IMPAIRMENT; HUMAN; HYPERTENSION; HYPOGONADISM; KIDNEY MALFORMATION; LIVER DISEASE; LIVER FIBROSIS; MENTAL DEFICIENCY; METABOLIC DISORDER; MOLECULAR GENETICS; MUTATIONAL LOAD; OBESITY; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETINA DEGENERATION; REVIEW; SPEECH DISORDER; TOOTH DISEASE;

EID: 85027927057     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12737     Document Type: Review

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