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Article

Infantile systemic hyalinosis with early thyroid dysfunction.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2007

Pirgon Ozgur, Atabek Mehmet Emre, Esen H Hasan, Cangul H

Abstract excerpt

Infantile systemic hyalinosis is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. The molecular basis of infantile systemic hyalinosis is unknown. The main pathological feature is widespread hyalinosis of many tissu...

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Identifiers

PMID: 17849746
DOI: 10.1515/jpem.2007.20.7.833

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17849746-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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