由p.Gly402Ser变体引起的蒂莫西综合征的表型特征 - Suppr | 超能文献

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Phenotypic Characterization of Timothy Syndrome Caused by the p.Gly402Ser Variant.由p.Gly402Ser变体引起的蒂莫西综合征的表型特征

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2

Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.无并指及主要心外表现的 Timothy 综合征 1 型基因型。

Am J Med Genet A. 2017 Mar;173(3):784-789. doi: 10.1002/ajmg.a.38084.

3

Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.在CACNA1C编码的L型钙通道中，新型长QT综合征相关错义突变L762F导致失活时间常数减慢，并增加了持续性电流和窗电流。

Int J Cardiol. 2016 Oct 1;220:290-8. doi: 10.1016/j.ijcard.2016.06.081. Epub 2016 Jun 23.

4

Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.扩展2型蒂莫西综合征的表型：一名患有心室颤动但发育正常的青少年。

Am J Med Genet A. 2015 Mar;167A(3):629-34. doi: 10.1002/ajmg.a.36924.

5

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.伴有并指（趾）畸形但QT间期无延长的蒂莫西综合征样病症。

Am J Med Genet A. 2018 Jul;176(7):1657-1661. doi: 10.1002/ajmg.a.38833. Epub 2018 May 7.

6

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.通过二代测序诊断的继发于CACNA1C基因镶嵌突变的不完全性 Timothy 综合征。

Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21.

7

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.1型蒂莫西综合征男性新生儿的罕见产前回顾性发现。

Eur J Med Genet. 2015 Jun-Jul;58(6-7):332-5. doi: 10.1016/j.ejmg.2015.04.001. Epub 2015 Apr 13.

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A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8).长QT综合征与并指畸形的罕见关联： Timothy综合征（LQT 8）

Clin Res Cardiol. 2011 Dec;100(12):1123-7. doi: 10.1007/s00392-011-0358-4. Epub 2011 Sep 14.

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Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.8型长QT综合征：导致QT间期延长和变异表型的新型CACNA1C突变

Europace. 2014 Dec;16(12):1828-37. doi: 10.1093/europace/euu063. Epub 2014 Apr 12.

10

Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside. Timothy 综合征中功能失调的 Cav1.2 通道：从细胞到 bedside。

Exp Biol Med (Maywood). 2019 Sep;244(12):960-971. doi: 10.1177/1535370219863149. Epub 2019 Jul 19.

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