Genotype-phenotype correlation in 22q11.2 deletion syndrome

BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22q11.2 with highly variable physical and neuropsychiatric manifestations. We explored the genotype-phenotype relationship in a relatively large 22q11.2DS cohort treated and monitored in our cl...

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Autors principals: Michaelovsky, Elena, Frisch, Amos, Carmel, Miri, Patya, Miriam, Zarchi, Omer, Green, Tamar, Basel-Vanagaite, Lina, Weizman, Abraham, Gothelf, Doron
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548696/
https://ncbi.nlm.nih.gov/pubmed/23245648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-122
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