Article

Whole exome sequencing reveals a mutation in <i>ARMC9</i> as a cause of mental retardation, ptosis and polydactyly

2017-02-17

Abstract excerpt

<h4>ABSTRACT</h4> Intellectual disability (ID) refers to deficits in mental abilities, social behaviour and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on identification of a novel gene for syndromic ID, using homozygosity mapping followed by exome sequencing in a family with mental retardation, ptosis and...

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Literature Corpus work: e88f7394-e450-572d-b76d-ac3f83e1e4f8
DOI: 10.1101/109124

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