No deletions or duplications involving these genes as causative of Bardet-Biedl syndrome are described. The clinical usefulness of this kind of tests is unidentified.
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No further more modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab experiences and clinic notes can be a permitted use.
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Screening of at-risk individuals all through childhood. Consensus holds that persons more youthful than age 18 yrs who're in danger for Grownup-onset Conditions must not have screening within the absence of signs and symptoms. The principal arguments against screening asymptomatic folks throughout childhood are that it gets rid of their choice to know or not know this info, it raises the potential for stigmatization in the loved ones and in other social configurations, and it might have top article major educational and job implications. On top of that, no preventive treatment is obtainable.
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Ordinary gene product. The sequence on the protein encoded by BBS2 displays no significant homology to any other recognised proteins, except a region near the N terminal shared with BBS1 and BBS7 made up of a predicted beta-propeller domain.