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Contiguous gene syndrome

The answer is e. (Murray, pp 787—811. Scriver, pp 521-529. Sack, pp 85—96. Wilson, pp 187—229.) Contiguous gene syndromes, also known as microdeletion syndromes, occur when deletions result in the loss of several different closely linked loci. Depending on the size of the deletion, different phenotypes may result. Mutations in the individual genes may result in isolated features that may be inherited in a Mendelian fashion. [Pg.380]

Martignoni G, Bonetti F, Pea M, et al. Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. Am J Surg Pathol 2002 26(2) 198-205. [Pg.767]

Nseir G, Golshayan D, Barbey F. Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome. Ren Fail July 2013 35(6) 866-8. [Pg.104]

See other pages where Contiguous gene syndrome is mentioned: [Pg.208]    [Pg.355]    [Pg.134]    [Pg.122]    [Pg.369]    [Pg.375]    [Pg.207]    [Pg.208]    [Pg.355]    [Pg.134]    [Pg.122]    [Pg.369]    [Pg.375]    [Pg.207]    [Pg.631]    [Pg.68]    [Pg.154]    [Pg.617]    [Pg.912]    [Pg.112]   
See also in sourсe #XX -- [ Pg.355 , Pg.380 ]



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