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Gain-of-function mutations in Trim71 linked to congenital hydrocephalus

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The genetic basis of congenital hydrocephalus is only partially understood. A new study in PLOS Biology reports a potential gain-of-function pathological mechanism of congenital hydrocephalus in mouse embryonic stem cells… Click to show full abstract

The genetic basis of congenital hydrocephalus is only partially understood. A new study in PLOS Biology reports a potential gain-of-function pathological mechanism of congenital hydrocephalus in mouse embryonic stem cells that involves Wnt–β-catenin signaling pathway regulation.

Keywords: gain function; function mutations; biology; congenital hydrocephalus

Journal Title: PLOS Biology
Year Published: 2023

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