Article

Phenotypic expansion in <i>DDX3X</i> – a common cause of intellectual disability in females

2018-03-18

Abstract excerpt

De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID), one of the most common causes of ID, in females. Forty-seven patients (44 females, 3 males) have been described. We identified 29 additional individuals carrying 27 unique DDX3X variants in the setting of complex clinical presentations including developmental delay or ID. In addition to previously reported manifestations, rar...

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Literature Corpus work: e2f75637-23c8-59ce-890b-dc0fef14bb4e
DOI: 10.1101/283598

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