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Article

A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation.

Journal of pediatric gastroenterology and nutrition - 1 Apr 2019

Khayat Ammar A, Suchi Mariko, Vitola Bernadette

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Share to Alagille Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Transferrin

Source

Identifiers

PMID: 29985876
DOI: 10.1097/MPG.0000000000002078

Genes

TFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation.PMID 29985876Read ↗

[A case of hemochromatosis associated with transferrin receptor 2 gene mutations].Semantic proximity Read ↗

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent.Semantic proximity Read ↗

TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood.Semantic proximity Read ↗

Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype.Semantic proximity Read ↗

A case report of dyskeratosis congenita caused by a novel TERC mutation.Semantic proximity Read ↗

Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: is there a link between African iron overload and TFR2 dysfunction?Semantic proximity Read ↗

An unusual case of hemochromatosis in an African-American man: case report and review of the literature.Semantic proximity Read ↗

A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.Semantic proximity Read ↗

Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.Semantic proximity Read ↗

[A case report of secondary hemochromatosis caused by a mutation in the ETV6 gene].Semantic proximity Read ↗

Commentary: Juvenile hemochromatosis in a Spanish family (by Montes-Cano et al.).Semantic proximity Read ↗

Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.Semantic proximity Read ↗

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