Article
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Clinical genetics - 1 Oct 2021
Rapp Christina K, Van Dijck Ine, Laugwitz Lucia, Boon Mieke, Briassoulis George, Ilia Stavroula, Kammer Birgit, Reu Simone, Hornung Stefanie, Buchert Rebecca, Sofan Linda, Froukh Tawfiq, Witters Peter, Rymen Daisy, Haack Tobias B, Proesmans Marijke, Griese Matthias
Abstract excerpt
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi-allelic variants in NHL repeat containing protein 2 (NHLRC2, MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional...
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