Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.-论文-万方医学网

第一作者： Adi,Aran

第一单位： From the Neuropediatric Unit (A.A.), Medical Genetics (N.R., R.J., P.R., S. Zuckerman, H.F., S. Zeligson, R.S., E.L.-L.), MRI Unit (Y.S.), and Obstetrics and Gynecology Department (E.M., R.R., O.S.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., N.R., H.F., R.S., Y.K., R.R., E.L.-L.), Jerusalem; Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Israel; Hereditary Research Laboratory (L.K., M.K.), Bethlehem University, Palestinian Authority; and Departments of Medicine (Medical Genetics) and Genome Sciences (M.L., T.W., M.C.K., S.G.), University of Washington, Seattle.

作者： Adi,Aran ^[1] ; Nuphar,Rosenfeld ^[1] ; Ranit,Jaron ^[1] ; Paul,Renbaum ^[1] ; Shachar,Zuckerman ^[1] ; Hila,Fridman ^[1] ; Sharon,Zeligson ^[1] ; Reeval,Segel ^[1] ; Yoav,Kohn ^[1] ; Lara,Kamal ^[1] ; Moien,Kanaan ^[1] ; Yoram,Segev ^[1] ; Eyal,Mazaki ^[1] ; Ron,Rabinowitz ^[1] ; Ori,Shen ^[1] ; Ming,Lee ^[1] ; Tom,Walsh ^[1] ; Mary Claire,King ^[1] ; Suleyman,Gulsuner ^[1] ; Ephrat,Levy-Lahad ^[2]

作者单位： From the Neuropediatric Unit (A.A.), Medical Genetics (N.R., R.J., P.R., S. Zuckerman, H.F., S. Zeligson, R.S., E.L.-L.), MRI Unit (Y.S.), and Obstetrics and Gynecology Department (E.M., R.R., O.S.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., N.R., H.F., R.S., Y.K., R.R., E.L.-L.), Jerusalem; Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Israel; Hereditary Research Laboratory (L.K., M.K.), Bethlehem University, Palestinian Authority; and Departments of Medicine (Medical Genetics) and Genome Sciences (M.L., T.W., M.C.K., S.G.), University of Washington, Seattle. ^[1] From the Neuropediatric Unit (A.A.), Medical Genetics (N.R., R.J., P.R., S. Zuckerman, H.F., S. Zeligson, R.S., E.L.-L.), MRI Unit (Y.S.), and Obstetrics and Gynecology Department (E.M., R.R., O.S.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., N.R., H.F., R.S., Y.K., R.R., E.L.-L.), Jerusalem; Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Israel; Hereditary Research Laboratory (L.K., M.K.), Bethlehem University, Palestinian Authority; and Departments of Medicine (Medical Genetics) and Genome Sciences (M.L., T.W., M.C.K., S.G.), University of Washington, Seattle. lahad@szmc.org.il. ^[2]

医学主题词脑(Brain);钙黏着糖蛋白类(Cadherins);近亲(Consanguinity);DNA突变分析(DNA Mutational Analysis);发育障碍(Developmental Disabilities);诊断, 鉴别(Diagnosis, Differential);女(雌)性(Female);胎儿生长迟缓(Fetal Growth Retardation);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);小头畸形(Microcephaly);突变(Mutation);系谱(Pedigree);表型(Phenotype);妊娠(Pregnancy);妊娠并发症, 感染性(Pregnancy Complications, Infectious);产前诊断(Prenatal Diagnosis);综合征(Syndrome);子宫疾病(Uterine Diseases)

DOI 10.1212/WNL.0000000000002704

PMID 27164683

发布时间 2021-12-04

检索历史清除

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Neurology

相似文献

同项目论文

Neurology

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Neurology

相似文献

同项目论文

Neurology

相关期刊

检索历史清除