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Article

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

American journal of medical genetics. Part A - 1 Jun 2017

McInerney-Leo Aideen M, Wheeler Lawrie, Marshall Mhairi S, Anderson Lisa K, Zankl Andreas, Brown Matthew A, Leo Paul J, Wicking Carol, Duncan Emma L

Abstract excerpt

We previously reported exome sequencing in a short-rib thoracic dystrophy (SRTD) cohort, in whom recessive mutations were identified in SRTD-associated genes in 10 of 11 cases. A heterozygous stop mutation in the known SRTD gene WDR60 was identified in the remaining case; no novel candidate gene/s were suggested by homozygous/compound heterozygous analysis. This case was thus considered unsolved. Re-analysis...

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PMID: 28422394
DOI: 10.1002/ajmg.a.38215

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

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Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.PMID 28422394Read ↗

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