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Article

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

American journal of medical genetics. Part A - 1 Sept 2024

Şimşek-Kiper Pelin Özlem, Karaosmanoğlu Beren, Taşkıran Ekim Zihni, Türer Özlem Boybeyi, Utine Gülen Eda, Soyer Tutku

Abstract excerpt

Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often...

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PMID: 38647386
DOI: 10.1002/ajmg.a.63629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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