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Article

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Nov 2020

Kose Engin, Besci Ozge, Gudeloglu Elif, Suncak Suzan, Oymak Yesim, Ozen Selime, Isguder Rana

Abstract excerpt

Objectives Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and agammaglobulinemia. Herein, we present TC deficiency diagnosed in two cases (twin siblings) with a novel variant in the...

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Identifiers

PMID: 32841161
DOI: 10.1515/jpem-2020-0096

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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