Article

ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

2024-07-23

Abstract excerpt

<h4>ABSTRACT</h4> ATR (Ataxia Telangiectasia and Rad3-related) kinase and its interacting protein ATRIP orchestrate the replication stress response. Two patients of independent ancestry with microcephaly, primordial dwarfism, and recurring infections were found to be homozygous for splice donor site variants of ATRIP exon 5, resulting in ATRIP deficiency. The c.829+5G>T patient exhibited autoimmune hemolytic anemi...

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Literature Corpus work: cd6df4f7-7bcb-5313-adac-fa390427d895
DOI: 10.1101/2024.07.22.24310550

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