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1
Cystic Kidneys in a Patient with Craniofacial Abnormalities.患有颅面畸形患者的多囊肾
Kidney360. 2020 Aug 27;1(8):882-883. doi: 10.34067/KID.0001332020.
2
Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease.
Nephrol Dial Transplant. 2006 Jun;21(6):1705-9. doi: 10.1093/ndt/gfk013. Epub 2005 Dec 29.
3
Evaluation of a patient with hypertension and mild renal failure in whom facial and digital abnormalities are noted.
Nephrol Dial Transplant. 1998 Mar;13(3):763-6. doi: 10.1093/ndt/13.3.763.
4
Utilizing the chicken as an animal model for human craniofacial ciliopathies.利用鸡作为人类颅面纤毛病的动物模型。
Dev Biol. 2016 Jul 15;415(2):326-337. doi: 10.1016/j.ydbio.2015.10.024. Epub 2015 Oct 24.
5
[THE ORO-FACIO-DIGITAL SYNDROME].
Pediatrie. 1964 Mar;19:265-6.
6
[Orofaciodigital syndrome type I in a mother and daughter].[母女患I型口面指综合征]
An Esp Pediatr. 1988 Jan;28(1):59-62.
7
[Pediatric dentistry syndrome with various oro-systemic congenital abnormalities (condroectodermal dysplasia or oro-digital-facial disorders); presentation of a case].[伴有多种口腔-全身先天性异常(软骨外胚层发育不良或口腔-指-面部疾病)的儿童牙科学综合征;1例报告]
Cent Estud Recur Odontol Nino. 1981 Apr;6(1):45-50.
8
Cystic kidneys in a patient with oral-facial-digital syndrome type I.一名患有I型口面指综合征患者的多囊肾。
Am J Kidney Dis. 1982 Mar;1(5):288-93. doi: 10.1016/s0272-6386(82)80027-9.
9
Renal cystic disease associated with orofaciodigital syndrome.
Urol Radiol. 1992;13(3):153-7. doi: 10.1007/BF02924610.
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Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?
Am J Med Genet. 1994 Jan 15;49(2):211-7. doi: 10.1002/ajmg.1320490211.

本文引用的文献

1
Clinical spectrum of male patients with OFD1 mutations.男性 OFD1 突变患者的临床特征。
J Hum Genet. 2019 Jan;64(1):3-9. doi: 10.1038/s10038-018-0532-x. Epub 2018 Nov 6.
2
Genes and molecular pathways underpinning ciliopathies.纤毛病的基因和分子通路
Nat Rev Mol Cell Biol. 2017 Sep;18(9):533-547. doi: 10.1038/nrm.2017.60. Epub 2017 Jul 12.
3
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.口腔-面-指综合征15年的研究:从1个到16个致病基因
J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13.
4
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.口面指综合征I型蛋白是初级纤毛形成和左右轴确定所必需的。
Nat Genet. 2006 Jan;38(1):112-7. doi: 10.1038/ng1684. Epub 2005 Nov 27.
5
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.1型口面指综合征(OFD1)是多囊肾病及相关畸形的病因之一,定位于Xp22.2-Xp22.3。
Hum Mol Genet. 1997 Jul;6(7):1163-7. doi: 10.1093/hmg/6.7.1163.

Cystic Kidneys in a Patient with Craniofacial Abnormalities.

作者信息

Tsao Allison L, Sperati C John

机构信息

Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

出版信息

Kidney360. 2020 Aug 27;1(8):882-883. doi: 10.34067/KID.0001332020.

DOI:10.34067/KID.0001332020
PMID:35372955
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8815731/
Abstract
摘要