Article
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Acta neuropathologica - 1 May 2018
Uusimaa Johanna, Kaarteenaho Riitta, Paakkola Teija, Tuominen Hannu, Karjalainen Minna K, Nadaf Javad, Varilo Teppo, Uusi-Mäkelä Meri, Suo-Palosaari Maria, Pietilä Ilkka, Hiltunen Anniina E, Ruddock Lloyd, Alanen Heli, Biterova Ekaterina, Miinalainen Ilkka, Salminen Annamari, Soininen Raija, Manninen Aki, Sormunen Raija, Kaakinen Mika, Vuolteenaho Reetta, Herva Riitta, Vieira Päivi, Dunder Teija, Kokkonen Hannaleena, Moilanen Jukka S, Rantala Heikki, Nogee Lawrence M, Majewski Jacek, Rämet Mika, Hallman Mikko, Hinttala Reetta
Abstract excerpt
A novel multi-organ disease that is fatal in early childhood was identified in three patients from two non-consanguineous families. These children were born asymptomatic but at the age of 2 months they manifested progressive multi-organ symptoms resembling no previously known disease. The main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent...
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