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Article

The Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes.

International journal of molecular sciences - 8 Nov 2024

Sechko Elena A, Koltakova Maria P, Khusainova Rita I, Minniakhmetov Ildar R, Laptev Dmitry N

Abstract excerpt

GATA6 syndrome is a rare monogenic disorder caused by heterozygous variants in the gene GATA6, which controls the early embryonic differentiation of germ layers and the development of different organs. We present the results of the 7-year follow-up of a child with this syndrome as well as the following conditions: diabetes mellitus, exocrine pancreatic insufficiency, gallbladder atresia, and congenital heart...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39596087
DOI: 10.3390/ijms252211998
PMCID: PMC11593795

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