STAR syndrome is part of the differential diagnosis of females with anorectal malformations.

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作者信息

Zarate Yuri A, Farrell Jessica M, Alfaro Maria P, Elhassan Nahed O

机构信息

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

Division of Neonatology, University of Arkansas for Medical Sciences, Little Rock.

出版信息

Am J Med Genet A. 2015 Aug;167A(8):1940-3. doi: 10.1002/ajmg.a.37078. Epub 2015 Apr 6.

DOI:10.1002/ajmg.a.37078

PMID:25845904

Abstract

摘要

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STAR syndrome is part of the differential diagnosis of females with anorectal malformations.

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相似文献

STAR syndrome is part of the differential diagnosis of females with anorectal malformations.

Am J Med Genet A. 2015 Aug;167A(8):1940-3. doi: 10.1002/ajmg.a.37078. Epub 2015 Apr 6.

STAR syndrome: a further case and the first report of maternal mosaicism.

Clin Dysmorphol. 2017 Jul;26(3):157-160. doi: 10.1097/MCD.0000000000000176.

STAR syndrome plus: The first description of a female patient with the lethal form.

Am J Med Genet A. 2017 Dec;173(12):3226-3230. doi: 10.1002/ajmg.a.38484. Epub 2017 Oct 31.

Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.

Ophthalmic Genet. 2016 Sep;37(3):323-7. doi: 10.3109/13816810.2015.1071407. Epub 2016 Feb 16.

Lily's Story: STAR Syndrome.

Adv Neonatal Care. 2015 Aug;15(4):269-73. doi: 10.1097/ANC.0000000000000207.

Clinical and genetic approach in the characterization of newborns with anorectal malformation.

J Matern Fetal Neonatal Med. 2022 Dec;35(23):4513-4520. doi: 10.1080/14767058.2020.1854213. Epub 2020 Dec 1.

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Am J Med Genet A. 2017 May;173(5):1328-1333. doi: 10.1002/ajmg.a.38113. Epub 2017 Mar 21.

STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis.

Cell Cycle. 2016;15(5):678-88. doi: 10.1080/15384101.2016.1147632.

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome.

Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19525-30. doi: 10.1073/pnas.1306814110. Epub 2013 Nov 11.

[Fraser syndrome. A case report].

J Fr Ophtalmol. 2006 Feb;29(2):184-7. doi: 10.1016/s0181-5512(06)73769-x.

引用本文的文献

Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome.

Am J Ophthalmol Case Rep. 2022 Jan 20;25:101284. doi: 10.1016/j.ajoc.2022.101284. eCollection 2022 Mar.

Cyclin-Dependent Kinases (CDK) and Their Role in Diseases Development-Review.

Int J Mol Sci. 2021 Mar 13;22(6):2935. doi: 10.3390/ijms22062935.

Cyclin-dependent kinases and rare developmental disorders.

Orphanet J Rare Dis. 2020 Aug 6;15(1):203. doi: 10.1186/s13023-020-01472-y.

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

Am J Med Genet A. 2018 Jan;176(1):92-98. doi: 10.1002/ajmg.a.38506. Epub 2017 Nov 12.

The awakening of the CDK10/Cyclin M protein kinase.

Oncotarget. 2017 Jul 25;8(30):50174-50186. doi: 10.18632/oncotarget.15024.

STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis.

Cell Cycle. 2016;15(5):678-88. doi: 10.1080/15384101.2016.1147632.