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Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

Smith–Magenis syndrome (SMS) and Potocki–Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11.2 region. Approximately 3.6 Mb microduplication of 17p11.2, known as PTLS, represents the mechanistically predicted homologous recombination reciprocal of the...

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書目詳細資料
發表在:J Pediatr Genet
Main Authors: Neira-Fresneda, Juanita, Potocki, Lorraine
格式: Artigo
語言:Inglês
出版: Georg Thieme Verlag KG 2015
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4918721/
https://ncbi.nlm.nih.gov/pubmed/27617127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1564443
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