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Bardet-Biedl-Syndrom 07

Das Bardet-Biedl-Syndrom 7 ist eine autosomal rezessive Erkrankung, die durch Mutationen im BBS7-Gen hervorgerufen wird.

Gliederung

Bardet-Biedl-Syndrom
Bardet-Biedl-Syndrom 01
Bardet-Biedl-Syndrom 02
Bardet-Biedl-Syndrom 03
Bardet-Biedl-Syndrom 04
Bardet-Biedl-Syndrom 05
Bardet-Biedl-Syndrom 06
Bardet-Biedl-Syndrom 07
BBS7
Bardet-Biedl-Syndrom 08
Bardet-Biedl-Syndrom 09
Bardet-Biedl-Syndrom 10
Bardet-Biedl-Syndrom 11
Bardet-Biedl-Syndrom 12
Bardet-Biedl-Syndrom 13
Bardet-Biedl-Syndrom 14
Bardet-Biedl-Syndrom 15
Bardet-Biedl-Syndrom 16
Bardet-Biedl-Syndrom 17
Bardet-Biedl-Syndrom 18
Bardet-Biedl-Syndrom 19
Bardet-Biedl-Syndrom 20

Referenzen:

1.

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2.

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3.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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4.

Shah AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.

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Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

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Tan PL et al. (2007) Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

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Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

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22.

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23.

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31.

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35.

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36.

Scheidecker S et al. (2014) Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

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37.

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38.

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39.

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40.

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41.

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42.

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43.

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44.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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56.

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57.

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58.

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61.

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62.

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63.

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64.

Elbedour K et al. (1994) Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.

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65.

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66.

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67.

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68.

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69.

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70.

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71.

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72.

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73.

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OMIM.ORG article

Omim 615984 external link
Update: 14. August 2020
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