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Phenotype of Adults With the 22q11 Deletion Syndrome: A Review

22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age ≥18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22...

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Autores principales: Cohen, Eyal, Chow, Eva W. C., Weksberg, Rosanna, Bassett, Anne S.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1999
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276590/
https://ncbi.nlm.nih.gov/pubmed/10494092
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