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Article

Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.

Diabetes research and clinical practice - 1 May 2021

Sanyoura May, Lundgrin Erika L, Subramanian Hari Prasanna, Yu Min, Sodadasi Priscilla, Greeley Siri Atma W, MacLeish Sarah, Del Gaudio Daniela

Abstract excerpt

We report a 6-month-old boy with antibody-positive insulin-dependent diabetes mellitus. Sequencing identified compound heterozygous deletions of exon 5 and exons 36-37 in LRBA. At three years, he has yet to exhibit any other immune symptoms. Genetic testing of LRBA is warranted in patients with neonatal diabetes, even without immune dysregulation.

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33845048
DOI: 10.1016/j.diabres.2021.108798
PMCID: PMC11056189

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