IQ and Hemizygosity for the Val(158)Met Functional Polymorphism of COMT in 22q11DS

22q11.2 Deletion Syndrome (22q11DS) is a multisystem disorder caused by a hemizygous deletion within 22q11.2. Patients with the deletion display a wide range of cognitive deficits. The gene catechol-O-methyl-transferase (COMT) resides in the typically deleted region of 22q11.2 and is rendered hemizy...

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Pubblicato in:Am J Med Genet B Neuropsychiatr Genet
Autori principali: Franconi, Colleen P., McDonald-McGinn, Donna, H.Zackai, Elaine, McNamara, Meghan A., Salmons, Harold, Moss, Edward, Gur, Raquel E., Devoto, Marcella, Emanuel, Beverly S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6733517/
https://ncbi.nlm.nih.gov/pubmed/27619075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32492
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