A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.

SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findings of a complex inherited neurodevelopmental disor...

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Bibliographic Details
Main Authors: Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A Chioza, Ryan M Ames, Harold E Cross, Erik G Puffenberger, Lorna Harries, Emma L Baple, Andrew H Crosby
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-09-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009803

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https://doi.org/10.1371/journal.pgen.1009803

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