Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

European Journal of Human Genetics, Published online: 01 June 2021; doi:10.1038/s41431-021-00851-8Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

https://www.nature.com/articles/s41431-021-00851-8

Source: European Journal of Human Genetics - June 1, 2021 Category: Genetics & Stem Cells Authors: Ana T öpf Angela Pyle Helen Griffin Leslie Matalonga Katherine Schon Enzo Cohen Isabel Cuesta Daniel Danis Anne-Sophie Denomm é-Pichon Yannis Duffourd Christian Gilissen Mridul Johari Steven Laurie Shuang Li Isabelle Nelson Ida Paramonov Sophia Peters S Source Type: research

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