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Article

Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.

American journal of medical genetics. Part A - 1 Apr 2013

Takahashi Yoshiko, Fujii Katsunori, Yoshida Akiko, Morisaki Hiroko, Kohno Yoichi, Morisaki Takayuki

Abstract excerpt

We report on a 2-year-old Japanese boy with early-onset pulmonary emphysema, exhibiting dysmorphic face, loose skin, and inguinal and Morgagni hernias. He was admitted to our hospital owing to refractory respiratory infection. On the basis of his clinical features, we investigated the SLC2A10 gene and identified novel compound heterozygous mutations of c.417T > A and c.692G > A, leading to the diagnosis of artery...

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Identifiers

PMID: 23494979
DOI: 10.1002/ajmg.a.35776

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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