QR Code

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 20% of cases. Here, we report a case series of seve...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R. Curtis Rogers, Barbara R. DuPont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M. Wentzensen, Blake Vuocolo, Seema R. Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J. Sanders, Sarah P. Blagden
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Elsevier 2024-10-01
Rangatū:HGG Advances
Ngā marau:
LARP1
autism
ASD
NDD
neurodevelopmental
metabolism
Urunga tuihono:http://www.sciencedirect.com/science/article/pii/S266624772400085X
Ngā Tūtohu: Tāpirihia he Tūtohu
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!

Ngā tūemi rite