Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. X-ray studies revealed δ-shaped extraphalangeal bones and disease-specific prominenc...

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Main Authors: Laccone, Franco, Schoner, Katharina, Krabichler, Birgit, Kluge, Britta, Schwerdtfeger, Robin, Schulze, Bernt, Zschocke, Johannes, Rehder, Helga
Format: Text
Language:English
Published: Nature Publishing Group 2011
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC3198135/
https://pubmed.ncbi.nlm.nih.gov/21654728
http://dx.doi.org/10.1038/ejhg.2011.101
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https://pmc.ncbi.nlm.nih.gov/articles/PMC3198135/
https://pubmed.ncbi.nlm.nih.gov/21654728
http://dx.doi.org/10.1038/ejhg.2011.101

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