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A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case repo...

A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case repo...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e827e2c5ecde4f22ade70a6ecc719e2f

A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report

About this item

Full title

A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report

Publisher

England: BioMed Central Ltd

Journal title

Journal of medical case reports, 2016-11, Vol.10 (1), p.342-342, Article 342

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian s...

Alternative Titles

Full title

A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_e827e2c5ecde4f22ade70a6ecc719e2f

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e827e2c5ecde4f22ade70a6ecc719e2f

Other Identifiers

ISSN

1752-1947

E-ISSN

1752-1947

DOI

10.1186/s13256-016-1126-x

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