Phenotypic spectrum associated with CASK loss-of-function mutations.-论文-万方医学网

作者： Ute,Moog ^[1] ; Kerstin,Kutsche ; Fanny,Kortüm ; Bettina,Chilian ; Tatjana,Bierhals ; Neophytos,Apeshiotis ; Stefanie,Balg ; Nicolas,Chassaing ; Christine,Coubes ; Soma,Das ; Hartmut,Engels ; Hilde,Van Esch ; Ute,Grasshoff ; Marisol,Heise ; Bertrand,Isidor ; Joanna,Jarvis ; Udo,Koehler ; Thomas,Martin ; Barbara,Oehl-Jaschkowitz ; Els,Ortibus ; Daniela T,Pilz ; Prab,Prabhakar ; Gudrun,Rappold ; Isabella,Rau ; Günther,Rettenberger ; Gregor,Schlüter ; Richard H,Scott ; Moonef,Shoukier ; Eva,Wohlleber ; Birgit,Zirn ; William B,Dobyns ; Gökhan,Uyanik

作者单位： Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. ^[1]

主题词碱基序列(Base Sequence);脑(Brain);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);女(雌)性(Female);基因剂量(Gene Dosage);基因复制(Gene Duplication);遗传关联研究(Genetic Association Studies);遗传变异(Genetic Variation);基因型(Genotype);杂合子(Heterozygote);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);婴儿(Infant);核型分析(Karyotyping);小头畸形(Microcephaly);分子序列数据(Molecular Sequence Data);表型(Phenotype);序列缺失(Sequence Deletion)

DOI 10.1136/jmedgenet-2011-100218

PMID 21954287

发布时间 2022-11-11

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Phenotypic spectrum associated with CASK loss-of-function mutations.

Journal of medical genetics

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Journal of medical genetics

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Phenotypic spectrum associated with CASK loss-of-function mutations.

Journal of medical genetics

相似文献

Journal of medical genetics

相关期刊

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