Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.-论文-万方医学网

作者： Lorena,Travaglini ^[1] ; Francesco,Brancati ; Jennifer,Silhavy ; Miriam,Iannicelli ; Elizabeth,Nickerson ; Nadia,Elkhartoufi ; Eric,Scott ; Emily,Spencer ; Stacey,Gabriel ; Sophie,Thomas ; Bruria,Ben-Zeev ; Enrico,Bertini ; Eugen,Boltshauser ; Malika,Chaouch ; Maria Roberta,Cilio ; Mirjam M,de Jong ; Hulya,Kayserili ; Gonul,Ogur ; Andrea,Poretti ; Sabrina,Signorini ; Graziella,Uziel ; Maha S,Zaki ; International JSRD Study Group ; Colin,Johnson ; Tania,Attié-Bitach ; Joseph G,Gleeson ; Enza Maria,Valente

作者单位： 1] IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory San Giovanni Rotondo, San Giovanni Rotondo, Italy [2] Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[1]

主题词畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);氨基酸序列(Amino Acid Sequence);小脑疾病(Cerebellar Diseases);小脑(Cerebellum);儿童(Child);儿童, 学龄前(Child, Preschool);纤毛运动障碍(Ciliary Motility Disorders);脑膨出(Encephalocele);眼畸形(Eye Abnormalities);女(雌)性(Female);基因频率(Gene Frequency);杂合子(Heterozygote);人类(Humans);婴儿(Infant);肾疾病, 囊性(Kidney Diseases, Cystic);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变(Mutation);系谱(Pedigree);表型(Phenotype);磷酸单酯水解酶类(Phosphoric Monoester Hydrolases);多囊肾疾病(Polycystic Kidney Diseases);产前诊断(Prenatal Diagnosis);患病率(Prevalence);视网膜(Retina);色素性视网膜炎(Retinitis Pigmentosa)

DOI 10.1038/ejhg.2012.305

PMID 23386033

发布时间 2021-10-21

检索历史清除

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

European journal of human genetics

相似文献

European journal of human genetics

相关期刊

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

检索历史 清除

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

European journal of human genetics

相似文献

European journal of human genetics

相关期刊

检索历史清除