INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

doi:10.1038/s41467-022-33547-8

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Article

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Nature communications - 13 Oct 2022

Mascibroda Lauren G, Shboul Mohammad, Elrod Nathan D, Colleaux Laurence, Hamamy Hanan, Huang Kai-Lieh, Peart Natoya, Singh Moirangthem Kiran, Lee Hane, Merriman Barry, Jodoin Jeanne N, Sitaram Poojitha, Lee Laura A, Fathalla Raja, Al-Rawashdeh Baeth, Ababneh Osama, El-Khateeb Mohammad, Escande-Beillard Nathalie, Nelson Stanley F, Wu Yixuan, Tong Liang, Kenney Linda J, Roy Sudipto, Russell William K, Amiel Jeanne, Reversade Bruno, Wagner Eric J

Abstract excerpt

Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. Mutations within 12 cilia-related genes have been identified that cause several types of OFD, suggesting that OFDs constitute a subgroup of developmental ciliopathies. Through homozygosity mapping and exome sequencing of two families with variable...

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PMID: 36229431
DOI: 10.1038/s41467-022-33547-8
PMCID: PMC9559116

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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.PMID 36229431Read ↗

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