Severe X‐linked chondrodysplasia punctata in nine new female fetuses
Prenatal Diagnosis2015Vol. 35(7), pp. 675–684
Citations Over TimeTop 16% of 2015 papers
Mathilde Lefebvre, Fabienne Dufernez, Ange‐Line Bruel, Marie Gonzalès, Bernard Aral, Judith Saint‐Onge, Nadège Gigot, Julie Désir, Caroline Daelemans, Frédérique Jossic, Sébastien Schmitt, R. Mangione, Fanny Pelluard, Catherine Vincent‐Delorme, J M Labaune, Nicole Bigi, Dominique D'Olne, Anne‐Lise Delezoide, Annick Toutain, Sophie Blesson, Valérie Cormier‐Daire, Julien Thévenon, Salima El Chehadeh, Alice Masurel‐Paulet, Nicole Joyé, Claude Vibert‐Guigue, Luc Rigonnot, Thierry Rousseau, P. Vabres, Philippe Hervé, Antonin Lamazière, Jean‐Baptiste Rivière, Laurence Faivre, Nicole Laurent, Christel Thauvin‐Robinet
Abstract
Prenatal detection of asymmetric shortening and bowing of the long bones and cartilage stippling should raise the possibility of CPDX2 in female fetuses, especially because the majority of such cases involve de novo mutations.
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