Article

Growth charts for pontocerebellar hypoplasia type 2A

2024-06-24

Abstract excerpt

<h4>Introduction</h4> Pontocerebellar hypoplasia type 2A (PCH2A) is a rare, autosomal recessive disease, caused by a homozygous pathogenic variant in the gene TSEN54 (c.919G>A, p.A307S). Apart from the characteristic pontocerebellar hypoplasia in MRI, PCH2A is clinically characterized by a dyskinetic movement disorder, severe neurodevelopment delay, progressive microcephaly, and, less well recognized, failure to t...

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Literature Corpus work: f9b2e935-f06f-580d-a618-5776f8961f16
DOI: 10.1101/2024.06.23.24307757

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