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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Nat Genet. 2007 Jan;39(1):25-7. doi: 10.1038/ng1933. Epub 2006 Dec 17.
Nat Genet. 2007.
PMID: 17173049
Free PMC article.
Two 22q telomere deletions serendipitously detected by FISH.
Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, Christian SL, Kittikamron K, Ledbetter DH.
Precht KS, et al.
J Med Genet. 1998 Nov;35(11):939-42. doi: 10.1136/jmg.35.11.939.
J Med Genet. 1998.
PMID: 9832042
Free PMC article.
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Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
Prasad C, Prasad AN, Chodirker BN, Lee C, Dawson AK, Jocelyn LJ, Chudley AE.
Prasad C, et al.
Clin Genet. 2000 Feb;57(2):103-9. doi: 10.1034/j.1399-0004.2000.570203.x.
Clin Genet. 2000.
PMID: 10735630
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