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Bardet-Biedl-Syndrom 13

Das Bardet-Biedl-Syndrom 13 ist eine autosomal rezessive Erkrankung, die durch Mutationen im MKS1-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
Bardet-Biedl-Syndrom 08
Bardet-Biedl-Syndrom 09
Bardet-Biedl-Syndrom 10
Bardet-Biedl-Syndrom 11
Bardet-Biedl-Syndrom 12
Bardet-Biedl-Syndrom 13
MKS1
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.

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

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2.

Laurier V et al. (2006) Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

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3.

Nishimura DY et al. (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

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4.

Sheffield VC et al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

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5.

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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6.

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8.

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9.

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

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10.

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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11.

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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12.

Young TL et al. (1998) Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

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13.

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14.

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17.

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19.

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20.

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21.

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22.

Badano JL et al. (2003) Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

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23.

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24.

Leitch CC et al. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

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25.

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26.

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27.

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28.

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29.

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30.

Stoetzel C et al. (2006) BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

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31.

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32.

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33.

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34.

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35.

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36.

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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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45.

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46.

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47.

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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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55.

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56.

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57.

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58.

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59.

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60.

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61.

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62.

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63.

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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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74.

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75.

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76.

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77.

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78.

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79.

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80.

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81.

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82.

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83.

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84.

OMIM.ORG article

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Update: 14. August 2020
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