Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families-论文-万方医学网

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families

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作者： Al-Hamed, Mohamed H. ^[1] ; Sayer, John A. ^[2] ; Alsahan, Nada ^[3] ; Tulbah, Maha ^[4] ; Kurdi, Wesam ^[5] ; Ambusaidi, Qamariya ; Ali, Wafaa ; Imtiaz, Faiqa

作者单位： King Faisal Specialist Hosp & Res Ctr, Dept Genet, POB 3354, Riyadh, Saudi Arabia ^[1] Newcastle Univ, Translat & Clin Res Inst, Fac Med Sci, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne ^[2] King Faisal Specialist Hosp & Res Ctr, Dept Obstet & Gynecol, POB 3354, Riyadh 11211, Saudi Arabia ^[3] Nizwa Hosp, POB 1222, Nizwa, Oman ^[4] KFSHI, Saudi Diagnost Lab, POB 6802, Riyadh 12311, Saudi Arabia ^[5]

关键词 FRAS1 FREM2 CAKUT Renal agenesis Fraser syndrome Molecular genetic diagnosis

发布时间 2022-09-11

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