Article

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency

2024-07-11

Abstract excerpt

<title>Abstract</title> <p>G6PC3 deficiency is a monogenic immunometabolic disorder that causes syndromic congenital neutropenia. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the <italic>G6PC3</italic> c.210delC variant found in patients of Mexican origin. Based on the shared haplotypes amongst...

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Literature Corpus work: 1609b1b0-a683-52d9-ac14-1df2c5a4ea8f
DOI: 10.21203/rs.3.rs-4595246/v1

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