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pro vyhledávání: '"Leigh Anne Autullo"'
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Autor:
Vidya Krishnamurthy, Orly Elpeleg, Kristin G. Monaghan, Aida Telegrafi, Marcia C. Willing, Yufeng Shen, Tomi L. Toler, Kyle Retterer, Wendy K. Chung, Jennifer M. Bain, Susan Sklower Brooks, Ashley Wilson, Gordon C. Gowans, Bruria Ben-Zev, Leigh Anne Autullo, Christina Botti, Megan T. Cho
Publikováno v:
The American Journal of Human Genetics. 99:728-734
Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6e2cdf9effcd0e0860e4955d4a2542
https://doi.org/10.1016/j.ajhg.2016.06.028
https://doi.org/10.1016/j.ajhg.2016.06.028
