Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

PurposeFINCA disease (Fibrosis, Neurodegeneration and Cerebral Angiomatosis, OMIM 618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our initial report in 2018, additional patients have been described. FINCA is the first human disease caused by recessive variants in the h...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Antti Tallgren, Leo Kager, Gina O’Grady, Hannu Tuominen, Jarmo Körkkö, Outi Kuismin, Martha Feucht, Callum Wilson, Jana Behunova, Eleina England, Mitja I. Kurki, Aarno Palotie, Mikko Hallman, Riitta Kaarteenaho, Franco Laccone, Kaan Boztug, Reetta Hinttala, Johanna Uusimaa
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2023-04-01
Цуврал:	Frontiers in Neuroscience
Нөхцлүүд:	NHLRC2 whole exome sequencing FINCA disease neurodevelopmental disorder macrocytic anemia
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fnins.2023.1123327/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!