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WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

机译：WDR34突变，导致III型短肋多态综合征/严重窒息性胸膜发育不良揭示纤毛中NF-κB通路的作用

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Huber Céline; Wu Sulin; Kim Ashley S.; Sigaudy Sabine; Sarukhanov Anna; Serre Valérie; Baujat Genevieve; Le Quan Sang Kim-Hanh; Rimoin David L.; Cohn Daniel H.; Munnich Arnold; Krakow Deborah; Cormier-Daire Valérie;
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1. WDR34 mutations that cause short-rib polydactyly syndrome type 3/severe asphyxiating thoracic dysplasia reveal a role for the NF-kB pathway in cilia [J] . HuberC., WuS., KimA.S., The American Journal of Human Genetics . 2013,第5期

机译：导致3型短肋多指综合征/严重窒息性胸廓发育不良的WDR34突变揭示了纤毛中NF-kB途径的作用
2. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a?fetus [J] . Chih-Ping Chen, Tsang-Ming Ko, Tung-Yao Chang, Taiwanese journal of obstetrics and gynecology . 2018,第1期

机译：产前诊断为 DYNC2H1 的复合杂合突变的III型短肋多指综合征或短肋胸发育不良3伴或不伴多指（SRTD3）。
3. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus [J] . Chen Chih-Ping, Ko Tsang-Ming, Chang Tung-Yao, Taiwanese journal of obstetrics and gynecology . 2018,第1期

机译：短肋骨综合征III型或短肋骨发育不良3的产前诊断，具有或不具有与胎儿DYNC2H1中的化合物杂合酶突变相关的多乳糖（SRTD3）
4. WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia [O] . Céline Huber, Sulin Wu, Ashley S. Kim, 2013

机译：WDR34突变导致III型短肋多态综合征/严重窒息性胸廓发育不良揭示纤毛中NF-κB通路的作用。
5. DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III [O] . Dagoneau, Nathalie, Goulet, Marie, Geneviève, David, 2009

机译：DYNC2H1突变导致窒息性胸肌营养不良和短肋多囊综合征，III型

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

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