Article

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

2018-05-11

Abstract excerpt

<h4>Purpose</h4> Holoprosencephaly (HPE) is a pathology of forebrain development characterized by high phenotypic and locus heterogeneity. Seventeen genes are known so far in HPE but the understanding of its genetic architecture remains to be refined. Here, we investigated the oligogenic nature of HPE resulting from accumulation of variants in different relevant genes. <h4>Methods</h4> Exome data from 29 patient...

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Literature Corpus work: 4b2dbc7b-1f6b-573e-a824-d9d72851c411
DOI: 10.1101/320127

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