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Article

Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.

Human mutation - 1 Dec 2020

Hong Sungkook, Hu Ping, Jang Jae Hee, Carrington Blake, Sood Raman, Berger Seth I, Roessler Erich, Muenke Maximilian

Abstract excerpt

Genetic variation in the highly conserved Sonic Hedgehog (SHH) gene is one of the most common genetic causes for the malformations of the brain and face in humans described as the holoprosencephaly clinical spectrum. However, only a minor fraction of known SHH variants have been experimentally proven to lead to abnormal function. Employing a phenotypic rescue assay with synthetic human messenger RNA variant...

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PMID: 32939873
DOI: 10.1002/humu.24119

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