A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease. - Suppr | 超能文献

A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.

作者信息

Morgan Anna, Dipresa Savina, Turolla Licia, La Bianca Martina, Faletra Flavio, Girotto Giorgia

机构信息

Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, Trieste, Italy.

Medical Genetics Unit, Local Health Authority, Treviso, Italy.

出版信息

Hum Mutat. 2021 Feb;42(2):213-215. doi: 10.1002/humu.24145. Epub 2020 Dec 8.

DOI:10.1002/humu.24145

Abstract

摘要

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.

Hum Mutat. 2021 Feb;42(2):213-215. doi: 10.1002/humu.24145. Epub 2020 Dec 8.

2

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.TAR 综合征：26 例患者的临床和分子特征及 RBM8A 新型非编码变异的描述

Hum Mutat. 2020 Jul;41(7):1220-1225. doi: 10.1002/humu.24021. Epub 2020 Apr 6.

3

TAR syndrome.血小板减少伴桡骨缺失综合征

Joint Bone Spine. 2023 Dec;90(6):105584. doi: 10.1016/j.jbspin.2023.105584. Epub 2023 Apr 29.

4

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.对 TAR（血小板减少伴桡骨缺如）综合征遗传基础的新认识。

Curr Opin Genet Dev. 2013 Jun;23(3):316-23. doi: 10.1016/j.gde.2013.02.015. Epub 2013 Apr 17.

5

Uncommon obstacle: management of end-stage heart failure in thrombocytopenia with absent radii (TAR) syndrome.不常见的障碍：无桡骨（TAR）综合征血小板减少症终末期心力衰竭的治疗。

BMJ Case Rep. 2021 Jul 13;14(7):e243127. doi: 10.1136/bcr-2021-243127.

6

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.1q21.1微缺失和RBM8A低表达等位基因复合杂合导致的血小板减少-桡骨缺失（TAR）综合征胎儿的产前诊断和尸检：病例报告

BMC Res Notes. 2013 Sep 22;6:376. doi: 10.1186/1756-0500-6-376.

7

Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described.

J Cutan Pathol. 2019 Aug;46(8):609-612. doi: 10.1111/cup.13483. Epub 2019 May 3.

8

T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature.年轻成人伴血小板减少性桡骨缺如综合征的 T 细胞急性淋巴细胞白血病：病例报告及文献复习。

J Pediatr Hematol Oncol. 2021 Aug 1;43(6):232-235. doi: 10.1097/MPH.0000000000001919.

9

Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.上肢海豹肢畸形：一例产前伴桡骨缺如/血小板减少症（TAR）综合征的病例，阐明了染色体微阵列在肢体减少缺陷中的重要性。

Taiwan J Obstet Gynecol. 2020 Mar;59(2):318-322. doi: 10.1016/j.tjog.2020.01.024.

10

Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature.一名患有桡骨缺如伴血小板减少症患者的急性髓系白血病：病例报告及文献综述

Hematol Oncol Stem Cell Ther. 2018 Dec;11(4):245-247. doi: 10.1016/j.hemonc.2017.02.001. Epub 2017 Feb 24.

引用本文的文献

1

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in That Expands the Spectrum of Null Alleles.血小板减少性桡骨缺失综合征：三例新病例描述及一种新型剪接变异体，该变异体扩展了无义等位基因谱。

Int J Mol Sci. 2022 Aug 25;23(17):9621. doi: 10.3390/ijms23179621.