作者：Xavier Bobbia ; MD^a ; ^{xavier.bobbia@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Aude Clé ; ment ; MD^a ; ^{aude.clement86@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Pierre Gé ; raud Claret ; MD^a ; ^{pierre.geraud.claret@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Sophie Bastide ; MD^b ; ^{sophie.bastide@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author} ; Sandrine Alonso ; MS^b ; ^{sandrine.alonso@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author} ; Patricia Wagner ; MD^a ; ^{patricia.wagner@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author} ; Tristan Tison ; MD^a ; ^{tristan.tison@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author} ; Laurent Muller ; PhD^a ; ^{laurent.muller@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author} ; Jean Emmanuel de La Coussaye ; PhD^a ; ^{jean.emmanuel.delacoussaye@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author}

刊名：The American Journal of Emergency Medicine

出版年：2016

作者：Agnè ; s Taillandier^a ; ^{ataillandier@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Christelle Domingues^a ; ^{christelle.adam1@voila.fr" class="auth_mail" title="E-mail the corresponding author} ; Clé ; mence De Cazanove^a ; ^{c.de.casanove@outlook.fr" class="auth_mail" title="E-mail the corresponding author} ; Valé ; rie Porquet-Bordes^b ; ^{porquet-bordes.v@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author} ; Sophie Monnot^c ; ^{sophie.monnot@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Tina Kiffer-Moreira^d ; ^{kiffer-moreira@sanfordburnham.org" class="auth_mail" title="E-mail the corresponding author} ; Agnè ; s Rothenbuhler^e ; ^f ; ^{anya.rothenbuhler@bct.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Pascal Guggenbuhl^g ; ^{pascal.guggenbuhl@chu-rennes.fr" class="auth_mail" title="E-mail the corresponding author} ; Catherine Cormier^h ; ^{Catherine.Cormier@cch.ap-hop-paris.fr" class="auth_mail" title="E-mail the corresponding author} ; Geneviè ; ve Baujatⁱ ; ^{genevieve.baujat@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Franç ; oise Debiais^j ; ^{francoise.debiais@chu-poitiers.fr" class="auth_mail" title="E-mail the corresponding author} ; Yline Capri^k ; ^{yline.capri@aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; Martine Cohen-Solal^l ; ^{martine.cohen-solal@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Philippe Parent^m ; ^{philippe.parent@chu-brest.fr" class="auth_mail" title="E-mail the corresponding author} ; Jean Chiesaⁿ ; ^{jean.chiesa@chu-nimes.fr" class="auth_mail" title="E-mail the corresponding author} ; Anne Dieux^o ; ^{anne.dieux@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author} ; Florence Petit^o ; ^{florence.petit@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author} ; Joelle Roume^p ; ^{drjroume@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Monica Isnard^q ; Valé ; rie Cormier-Daire^c ; ^{valerie.cormier-daire@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Agnè ; s Linglart^e ; ^f ; ^{agnes.linglart@aphp.fr" class="auth_mail" title="E-mail the corresponding author} ; José ; Luis Millá ; n^d ; ^{millan@sanfordburnham.org" class="auth_mail" title="E-mail the corresponding author} ; Jean-Pierre Salles^b ; ^{salles.jp@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author} ; Christine Muti^a ; ^{cmuti@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Brigitte Simon-Bouy^a ; ^{bsimon-bouy@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author} ; Etienne Mornet^a ; ^{emornet@ch-versailles.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：Hypophosphatasia ; NGS ; Differential diagnosis ; Osteogenesis imperfecta

刊名：Molecular Genetics and Metabolism

出版年：2015