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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...

詳細記述

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書誌詳細
出版年:J Pediatr Genet
主要な著者: Neira-Fresneda, Juanita, Potocki, Lorraine
フォーマット: Artigo
言語:Inglês
出版事項: Georg Thieme Verlag KG 2015
オンライン・アクセス: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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