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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

✍ Scribed by V Cormier-Daire, C Huber, J Baujat, R Caumes, H Kayirangwa, M Le Merrer…

Book ID
120732092
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
81 KB
Volume
1
Category
Article
ISSN
2046-2530

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Asphyxiating thoracic dysplasia: clinica
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
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## 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