Article

Identification of novel disease relevant genetic modifiers affecting the SHH pathway in the developing brain

2020-11-03

Abstract excerpt

<h4>SUMMARY</h4> Pathogenic gene variants in humans affecting the sonic hedgehog (SHH) pathway lead to severe brain malformations with variable penetrance due to unknown genetic modifiers. To identify such modifiers, we established novel congenic mouse models. LRP2 deficient C57BL/6N mice suffer from heart outflow tract defects and holoprosencephaly caused by impaired SHH activity. These defects are fully rescued...

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Literature Corpus work: 2fa67fba-269d-55cd-a42b-4c8a8b23903d
DOI: 10.1101/2020.11.03.366302

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