Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2-Mb deletion on 18q21.2 in one patient. Sequencing...

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Bibliografski detalji
Glavni autori: Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C. M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2007
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852727/
https://ncbi.nlm.nih.gov/pubmed/17436255
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