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Article

Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 Jan 2014

Singh Ankur, Chaudhary Neha, Dhingra Dhulika, Sukalo Maja, Zenker Martin, Kapoor Seema

Abstract excerpt

Johanson-Blizzard syndrome (JBS); (OMIM: 243800) presents with features of malabsorption and dysmorphic features with onset of symptoms in infantile age group. The disorder was first described in the year 1971 with report of the first Indian case in 2004. We discuss two rare phenotypes (hepatitis and anemia) in a molecularly confirmed case of JBS.

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Source

Identifiers

PMID: 24052374
DOI: 10.1007/s12664-013-0391-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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