Article
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.
Human mutation - 1 Feb 2020
Heimer Gali, van Woerden Geeske M, Barel Ortal, Marek-Yagel Dina, Kol Nitzan, Munting Johannes B, Borghei Minoeshka, Atawneh Osama M, Nissenkorn Andreea, Rechavi Gideon, Anikster Yair, Elgersma Ype, Kushner Steven A, Ben Zeev Bruria
Abstract excerpt
We describe the underlying genetic cause of a novel Rett-like phenotype accompanied by areflexia in three methyl-CpG-binding protein 2-negative individuals from two unrelated families. Discovery analysis was performed using whole-exome sequencing followed by Sanger sequencing for validation and segregation. Functional studies using short-hairpin RNA for targeted gene knockdown were implemented by the transfection...
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