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Article

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.

The Turkish journal of pediatrics - 1 Jan 2000

Türkkani-Asal Gülten, Alanay Yasemin, Turul-Ozgür Tuba, Zenker Martin, Thiel Christian, Rauch Anita, Unal Sule, Gürgey Aytemiz, Tezcan Ilhan

Abstract excerpt

Cartilage-hair hypoplasia (CHH) is one of the well-known immuno-osseous dysplasias (IOD), which are a combination of skeletal dysplasia and immunodeficiency. It is characterized by disproportionate short stature, fine sparse hair, ligamentous laxity, hematological abnormalities with anemia, a predisposition to malignant tumors, and recurrent infections usually due to cellular and/or humoral immunodeficiency....

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PMID: 20112607

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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