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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapp...
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Опубликовано в: : | PLoS One |
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Главные авторы: | , , , , , , , , |
Формат: | Artigo |
Язык: | Inglês |
Опубликовано: |
Public Library of Science
2017
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Предметы: | |
Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5393878/ https://ncbi.nlm.nih.gov/pubmed/28414775 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0175962 |
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