Item type:Thesis, Open Access

Zur Frage der Vererbung des Bardet-Biedl-Syndroms (BBS) - Molekulargenetische Analysen in den Genen BBS1 und BBS6

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Date

2008-01-10

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Philipps-Universität Marburg
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Abstract

With an estimated prevalence of 1:150.000 in the European population the Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare multisystemic disorder. The syndrome is autosomal recessively inherited and affects cilia and basal body function in multiple organ systems. The phenotype is characterized by the association of postaxial polydactyly, retinopathy, obesity, hypogonadism in males, renal dysfunction and variable mental deficiency. Over the past years it has become obvious that BBS is genetically heterogeneous with several genes (BBS1-BBS8) involved. For clinical manifestation mutations in more than one BBS-locus are needed. Therefore, BBS is now regarded as a disorder with digenic or even oligogenic inheritance.

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Dates
Created: 2005Issued: 2008-01-10Updated: 2011-08-10
DOI
https://doi.org/10.17192/z2007.0814
Faculty
Medizin
Publisher
Philipps-Universität Marburg
Language
ger
Data types
DoctoralThesis
Keywords
Bardet-BiedlSSCASSCAp.M390RBBS1BBS6BBS1BBS6Bardet-Biedlp.M390R
DFG-subjects
VererbungPolymorphismusRetinopathia pigmentosaPolydaktylieHeterogenitätDNSGenmutationPunktmutationGehörlosigkeitFettsucht
DDC-Numbers
610
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URI
https://open.uni-marburg.de/handle/10.17192/z2007.0814
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Frick, Benjamin S.: Zur Frage der Vererbung des Bardet-Biedl-Syndroms (BBS) - Molekulargenetische Analysen in den Genen BBS1 und BBS6. : Philipps-Universität Marburg 2008-01-10. DOI: https://doi.org/10.17192/z2007.0814.

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This item has been published with the following license: In Copyright