De novo mutations in PURA are associated with hypotonia and developmental delay

PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children wh...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Cold Spring Harb Mol Case Stud
Main Authors: Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.
פורמט: Artigo
שפה:Inglês
יצא לאור: Cold Spring Harbor Laboratory Press 2015
נושאים:
Research Report
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4850890/
https://ncbi.nlm.nih.gov/pubmed/27148565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000356
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