Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karolinum Press
2019-01-01
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| Series: | Prague Medical Report |
| Subjects: | |
| Online Access: | https://pmr.lf1.cuni.cz/120/4/0124/ |