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Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

The terminal 22q13.3 deletion syndrome is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. We identified a child with all the features of 22q13.3 deletion syndrome. The patient's karyotype showed...

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Detalhes bibliográficos
Main Authors: Bonaglia, Maria Clara, Giorda, Roberto, Borgatti, Renato, Felisari, Giorgio, Gagliardi, Chiara, Selicorni, Angelo, Zuffardi, Orsetta
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235301/
https://ncbi.nlm.nih.gov/pubmed/11431708
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