Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
About this item
Full title
Author / Creator
Publisher
Washington, DC: American Society for the Advancement of Science
Journal title
Language
English
Formats
Publication information
Publisher
Washington, DC: American Society for the Advancement of Science
Subjects
More information
Scope and Contents
Contents
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. BBS is considered an autosomal recessive disorder, and recent positional cloning efforts have identified two BBS genes (BBS2 and BBS6...
Alternative Titles
Full title
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_743537317
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_743537317
Other Identifiers
ISSN
0036-8075
E-ISSN
1095-9203
DOI
10.1126/science.1063525
