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Article

Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

Congenital anomalies - 1 Jan 2017

Yasui Yoshitomo, Kohno Miyuki, Nishida Syouichi, Shironomae Tsubasa, Satomi Miwa, Kuwahara Tsuyoshi, Takahashi Sadayoshi, Niida Yo

Abstract excerpt

Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported...

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Identifiers

PMID: 27270827
DOI: 10.1111/cga.12175

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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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