Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

OBJECTIVE: Failure to thrive (FTT) is a feature of children with Potocki-Lupski syndrome (PTLS) [duplication 17p11.2]. This study was designed to describe the growth characteristics of 24 subjects with PTLS from birth through age 5 years in conjunction with relevant physical features and swallow fun...

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Главные авторы: Soler-Alfonso, Claudia, Motil, Kathleen J., Turk, Catherine L., Robbins-Furman, Patricia, Friedman, Ellen M., Zhang, Feng, Lupski, James R., Fraley, J. Kennard, Potocki, Lorraine
Формат: Artigo
Язык:Inglês
Опубликовано: 2010
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3059370/
https://ncbi.nlm.nih.gov/pubmed/21168152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2010.09.062
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