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Bardet-Biedl-Syndrom 04

Das Bardet-Biedl-Syndrom 4 ist eine autosomal rezessive Erkrankung, die durch Mutationen im BBS4-Gen hervorgerufen wird.

Gliederung

Bardet-Biedl-Syndrom
Bardet-Biedl-Syndrom 01
Bardet-Biedl-Syndrom 02
Bardet-Biedl-Syndrom 03
Bardet-Biedl-Syndrom 04
BBS4
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
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.

Cox GF et al. (2003) Retinal function in carriers of Bardet-Biedl syndrome.

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2.

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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3.

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

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4.

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

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5.

Moore SJ et al. (2005) Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

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6.

Kulaga HM et al. (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

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7.

Fan Y et al. (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

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8.

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9.

None (1956) Laurence-Moon-Biedl syndrome in an Arab boy: familial incidence.

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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.

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12.

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13.

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19.

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20.

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21.

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22.

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23.

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24.

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25.

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26.

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31.

Mykytyn K et al. (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

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32.

Katsanis N et al. (2002) BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

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33.

Iannaccone A et al. (2005) Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.

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34.

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35.

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36.

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37.

Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

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38.

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39.

Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

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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.

None (1971) Familial translocation t(2p-; 17p+).

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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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64.

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65.

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66.

OMIM.ORG article

Omim 615982 external link
Update: 14. August 2020
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