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机译:CCDC88C CCDC88C的双等异构突变是严重先天性脑积水的罕见原因
Center for Integrative Brain ResearchSeattle Children's Research InstituteSeattle Washington;
Center for Developmental Biology and Regenerative MedicineSeattle Children's Research;
Center for Integrative Brain ResearchSeattle Children's Research InstituteSeattle Washington;
Division of Ophthalmology Roger H. Johnson Vision LabSeattle Children's HospitalSeattle Washington;
Division of Pediatric NeurologySeattle Children's HospitalSeattle Washington;
Department of RadiologySeattle Children's HospitalSeattle Washington;
Center for Integrative Brain ResearchSeattle Children's Research InstituteSeattle Washington;
Center for Integrative Brain ResearchSeattle Children's Research InstituteSeattle Washington;
autosomal recessive; CCDC88C; DAPLE; hydrocephalus;
机译:CCDC88C CCDC88C的双等异构突变是严重先天性脑积水的罕见原因
机译:由于 CCDC88C em>突变而引起的Wnt信号受阻,导致常染色体隐性非综合征性脑积水并伴有内侧憩室
机译:Syt2中功能突变的双等异位损失导致先天性发病严重突触前染发剂综合征
机译:鉴定DPAGT1作为突变引起先天性染发素综合征的新基因
机译:无关的多基因突变的证据,为新生犊牛中的水CE综合症。
机译:CCDC88C的双等位基因突变是严重先天性脑积水的罕见原因
机译:由于CCDC88C突变而引起的Wnt信号紊乱导致常发性隐性非综合征性脑积水伴内侧憩室