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首页> European journal of human genetics : EJHG> Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

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作者： Tamar,Harel ^[1] ; Ephrat,Levy-Lahad ^[2] ; Muhannad,Daana ^[3] ; Hadas,Mechoulam ^[4] ; Smadar,Horowitz-Cederboim ^[2] ; Michal,Gur ^[5] ; Vardiella,Meiner ^[5] ; Orly,Elpeleg ^[5]

作者单位： Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel. tamarhe@hadassah.org.il. ^[1] Medical Genetics Institute, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. ^[2] Child Development Centers, Clalit and Maccabi Health Care Services, Jerusalem District, Jerusalem, Israel. ^[3] Center for Pediatric Ophthalmology, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[4] Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel. ^[5] Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[6]

主题词儿童, 学龄前(Child, Preschool);腭裂(Cleft Palate);密码子, 无义(Codon, Nonsense);发育障碍(Developmental Disabilities);家庭卫生(Family Health);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);纯合子(Homozygote);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);系谱(Pedigree);受体, 转化生长因子β(Receptors, Transforming Growth Factor beta);玻璃体视网膜病, 增生性(Vitreoretinopathy, Proliferative)

DOI 10.1038/s41431-019-0380-y

PMID 30976112

发布时间 2021-01-09

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European journal of human genetics : EJHG

European journal of human genetics

2019年27卷8期

1315-1319页

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