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Biallelic Loss-of-Function

Authors :
Francesca, Magrinelli
Elisa, Cali
Vinícius Lopes, Braga
Uluç, Yis
Hoda, Tomoum
Hanan, Shamseldin
Julian, Raiman
Christoph, Kernstock
Flávio Moura, Rezende Filho
Orlando Graziani Povoas, Barsottini
Robert W, Taylor
Elsebet, Østergaard
Abdullah, Tamim
Karin, Schäferhoff
Juliana Maria Ferraz, Sallum
Maha S, Zaki
Fernando, Kok
Kailash P, Bhatia
Bernd, Wissinger
Kate, Sergeant
Tobias B, Haack
Rita, Horvath
Semra, Hiz
Fowzan S, Alkuraya
Henry, Houlden
José Luiz, Pedroso
Reza, Maroofian
Source :
Movement disorders clinical practice. 9(2)
Publication Year :
2021

Abstract

Biallelic loss-of-functionTo fully characterize, both phenotypically and genotypically,We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature.Nine unreportedOur case series expands phenotype-genotype correlations in

Details

ISSN :
23301619
Volume :
9
Issue :
2
Database :
OpenAIRE
Journal :
Movement disorders clinical practice
Accession number :
edsair.pmid..........615e290f5480b1a41a5cb4fb645a6753