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Article

[H syndrome: First reported paediatric case in Latin America].

Revista chilena de pediatria - 1 Jan 2000

Abarca Barriga Hugo Hernán, Trubnykova Milana, Polar Córdoba Victoria, Ramos Diaz Katherine Joyce, Aviles Alfaro Nélida

Abstract excerpt

INTRODUCTION: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. OBJECTIVE: To present a clinical case with "typical" characteristics of H Syndrome. CLINICAL CASE: The case is presented of an 8-year-old male patient who presented with testicular tumours and skin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27143505
DOI: 10.1016/j.rchipe.2016.03.006

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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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