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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

✍ Scribed by Baujat, G.; Huber, C.; El Hokayem, J.; Caumes, R.; Do Ngoc Thanh, C.; David, A.; Delezoide, A.-L.; Dieux-Coeslier, A.; Estournet, B.; Francannet, C.; Kayirangwa, H.; Lacaille, F.; Le Bourgeois, M.; Martinovic, J.; Salomon, R.; Sigaudy, S.; Malan, V.; Munnich, A.; Le Merrer, M.; Le Quan Sang, K. H.; Cormier-Daire, V.

Book ID
126658013
Publisher
BMJ Publishing Group
Year
2013
Tongue
English
Weight
344 KB
Volume
50
Category
Article
ISSN
0022-2593

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Asphyxiating thoracic dysplasia: clinica
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
✍ Baujat, G.; Huber, C.; El Hokayem, J.; Caumes, R.; Do Ngoc Thanh, C.; David, A.; πŸ“‚ Article πŸ“… 2013 πŸ› BMJ Publishing Group 🌐 English βš– 344 KB

## Background: Asphyxiating thoracic dysplasia (atd) belongs to the short rib polydactyly group and is characterized by a narrow thorax, short long bones and trident acetabular roof. other reported features include polydactyly, renal, liver and retinal involvement. to date, mutations in ift80, dync