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Article

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 Nov 2013

Singh Ankur, Krishnan Rajeshwari, Bhattacharya Malobika, Pradhan Gaurav, Salzer Ulrich, Kapoor Seema

Abstract excerpt

Cartilage hair hypoplasia is a genetic disease, characterized by generalized metaphyseal dysplasia mainly affecting the knee joints. Variable extraskeletal features like anemia, malabsorption, impaired spermatogenesis, impaired immunity, and malignancies have been reported. The work up of malabsorption and short stature led to the diagnosis of celiac disease in three previous cases of cartilage hair hypoplasia....

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Identifiers

PMID: 23949991
DOI: 10.1007/s12664-013-0358-6

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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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