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Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.

Prague medical report - 1 Jan 2019

Čechová Anna, Baxová Alice, Zeman Jiří, Lambert Lukáš, Honzík Tomáš, Leiská Alena, Čunát Václav, Tesařová Markéta

Abstract excerpt

Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. Both severe and milder course of the disease were described in correlation with secondary involvement of lung's function. Two children with attenuated...

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PMID: 31935347
DOI: 10.14712/23362936.2019.17

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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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