Article

<i>INTS13</i> Mutations Causing a Developmental Ciliopathy Disrupt Integrator Complex Assembly

2020-07-21

Abstract excerpt

<h4>ABSTRACT</h4> Oral-facial-digital syndromes (OFD) are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. To date, mutations in 12 ciliary-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...

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Literature Corpus work: 725b3e50-04e3-57bb-8c95-437882b99dca
DOI: 10.1101/2020.07.20.209130

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