Mutations in IFT80 cause SRPS Type IV. Report of two families and review

Bizaoui Varoona; Huber Celine; Kohaut Eva; Roume Joelle; Bonniere Maryse; Attie-Bitach Tania; Cormier-Daire Valerie

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Mutations in IFT80 cause SRPS Type IV. Report of two families and review

机译：IFT80中的突变原因SRPS型IV。两个家庭报告和审查

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We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.

机译：我们在来自两个不相关的家族中鉴定的IFT80基因中的新型致病突变报告了来自两个无关的家族的IFT80基因，其具有甜菜甜甜圈综合征（BLS）或BLS样表型。我们讨论IFT80基因在纤毛病中的含义，以及其在其他SRP中的BLS的诊断价值。

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来源
《American journal of medical genetics, Part A》 |2019年第4期|共6页
作者
Bizaoui Varoona; Huber Celine; Kohaut Eva; Roume Joelle; Bonniere Maryse; Attie-Bitach Tania; Cormier-Daire Valerie;
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作者单位

Necker Enfants Malad Hosp AP HP Reference Ctr Skeletal Dysplasia Paris France;

IMAGINE Inst INSERM UMR1163 Paris France;

Hop Necker Enfants Malad AP HP Unite Embryofoetopathol Serv Histol Embryol Cytogenet Paris;

CHI Poissy Dept Genet Reference Ctr Rare Dev Dis AnD DI Rares Poissy France;

Hop Necker Enfants Malad AP HP Unite Embryofoetopathol Serv Histol Embryol Cytogenet Paris;

Univ Paris 05 Dept Genet Sorbonne Paris Cite Paris France;

Necker Enfants Malad Hosp AP HP Reference Ctr Skeletal Dysplasia Paris France;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
Beemer-Langer syndrome; ciliopathy; IFT80; short rib polydactyly syndromes;

机译：Beemer-langer综合征;cileopathy;IFT80;短肋骨多乳扁综合征;

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专利

1. Mutations in IFT80 cause SRPS Type IV. Report of two families and review [J] . Bizaoui Varoona, Huber Celine, Kohaut Eva, American journal of medical genetics, Part A . 2019,第4期

机译：IFT80中的突变原因SRPS型IV。两个家庭报告和审查
2. Majewski Syndrome, Short Rib Polydactyly Syndrome (SRPS) Type II - A Rare Case Report, with Review of Literature [J] . British Journal of Medicine and Medical Research . 2015,第12期

机译：Majewski综合征，II型短肋多指综合征（SRPS）-罕见病例报告，并文献复习
3. Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families. [J] . Bai ZL, Feng YG, Tan SS, British Journal of Dermatology . 2008,第1期

机译：先天性气管炎1型中KRT6A的突变比KRT16的突变更常见：在两个不相关的中国家庭中，有小说报道，最近有报道。
4. It Is Time for Self-Incident-Reporting for Patients and Their Families in Every Health Care Organization: A Literature Review [C] . Ulla-Mari Kinnunen, Kaija Saranto MEDINFO . 2013

机译：是在每项医疗组织中为患者及其家属进行自我入侵报告的时候了：文献综述
5. Influence of a collagen mutation of the mechanical nature of bone: Governing factors in a disease model for osteogenesis imperfecta type IV. [D] . Kozloff, Kenneth Michael. 2005

机译：骨机械性质的胶原蛋白突变的影响：IV型成骨不全症疾病模型中的控制因素。
6. Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. [O] . S Kontusaari, G Tromp, H Kuivaniemi, 1990

机译：在具有主动脉瘤和容易瘀伤的家族中III型胶原蛋白基因（COL3A1）中RNA剪接突变（G + 1 IVS20）的遗传：家族性动脉瘤与IV型Ehlers-Danlos综合征之间的表型重叠。
7. BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports [O] . Toro, J R, Wei, M-H, Glenn, G M, 2008

机译：Birt–Hogg–Dubé综合征的BHD突变，临床和分子遗传学研究：50个家族的新系列和已发表报告的综述

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

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