机译:PADDAS综合征与毛发发育不良引起的PUM1 PUM1的脱义畸形变种相关
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Dermatology Paediatric Dermatology UnitNational Reference Center for Rare Skin;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
Department of Medical GeneticsCHU BordeauxBordeaux France;
hair dysplasia; intellectual disability; PUM1; whole‐exome sequencing;
机译:PADDAS综合征与毛发发育不良引起的PUM1 PUM1的脱义畸形变种相关
机译:由PPP1CB中反复发生的从头错义突变引起的新型Rasopathy与生发稀疏的Noonan综合征非常相似。
机译:Nectin4(PVRL4)Nectin4(PVRL4)中的一种新型纯合的畸形变种,导致异常发育不良皮肤综合征
机译:识别遗传变异突然未解释的死亡综合征的整体exome测序方法
机译:神经发育障碍中的Novo畸形突变
机译:由PPP1CB中反复发生的从头错义突变引起的新型Rasopathy与生发稀疏的Noonan综合征非常相似。
机译:日本成年人和两个女孩,由De Novo Missense Variants在DHX30中引起的