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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cold Spring Harb Mol Case Stud
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Cold Spring Harbor Laboratory Press 2015
Pynciau:
Research Report
Mynediad Ar-lein: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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