A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter].
作者信息
Furqoni Abdul Hadi, Fajarwati Indah, Poetranto Anna Lystia
机构信息
Center for Biomedical Research, Research Organization for Health, National Research and Innovation Agency (BRIN), Cibinong Science Center, Cibinong - Bogor, West Java, Indonesia.
出版信息
Pharmgenomics Pers Med. 2023 Oct 25;16:911-912. doi: 10.2147/PGPM.S442628. eCollection 2023.
Abstract
摘要
相似文献
1
A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter].一例伴有MAP2K1致病变异的心脏颜面皮肤综合征病例报告[信函]
Pharmgenomics Pers Med. 2023 Oct 25;16:911-912. doi: 10.2147/PGPM.S442628. eCollection 2023.
2
A Case Report of Cardiofaciocutaneous Syndrome with Pathogenic Variant.一例伴有致病变异的心脏颜面皮肤综合征病例报告
Pharmgenomics Pers Med. 2023 Sep 8;16:817-823. doi: 10.2147/PGPM.S411964. eCollection 2023.
3
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.东南亚两名患者的3型心面皮肤综合征的多样临床表现
Mol Syndromol. 2023 Feb;14(1):21-29. doi: 10.1159/000525434. Epub 2022 Jul 21.
4
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo Pathogenic Variant.一例新发致病性变异病例中的心脏颜面皮肤综合征表型
Mol Syndromol. 2020 Jan;10(6):344-347. doi: 10.1159/000504374. Epub 2019 Nov 26.
5
An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report.通过全基因组测序诊断的心脏颜面皮肤综合征的不寻常表现：一例报告
Cureus. 2023 Feb 15;15(2):e35021. doi: 10.7759/cureus.35021. eCollection 2023 Feb.
6
Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in - Case Study.一名因 - 基因致病性变异导致3型心面皮肤综合征（CFC 3）男孩的嗓音、听力、口腔牙齿及言语问题——病例研究
Appl Clin Genet. 2021 Sep 6;14:389-398. doi: 10.2147/TACG.S316215. eCollection 2021.
7
Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.心面脂综合征相关致病性 MAP2K1 变异可激活自噬。
Gene. 2020 Apr 5;733:144369. doi: 10.1016/j.gene.2020.144369. Epub 2020 Jan 20.
8
Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.具有MAP2K1突变个体的临床和神经心理学特征的变异性。
Am J Med Genet A. 2017 Feb;173(2):452-459. doi: 10.1002/ajmg.a.38044. Epub 2016 Nov 14.
9
[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].[心脏颜面皮肤综合征，一种与努南综合征相关的疾病：11例患者的临床和分子学发现]
Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4.
10
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.心面皮肤综合征的神经和神经发育并发症与基因型相关：一项多中心队列研究。
Genet Med. 2022 Jul;24(7):1556-1566. doi: 10.1016/j.gim.2022.04.004. Epub 2022 May 7.
本文引用的文献
1
A Case Report of Cardiofaciocutaneous Syndrome with Pathogenic Variant.一例伴有致病变异的心脏颜面皮肤综合征病例报告
Pharmgenomics Pers Med. 2023 Sep 8;16:817-823. doi: 10.2147/PGPM.S411964. eCollection 2023.
2
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.东南亚两名患者的3型心面皮肤综合征的多样临床表现
Mol Syndromol. 2023 Feb;14(1):21-29. doi: 10.1159/000525434. Epub 2022 Jul 21.
3
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in : A multifaceted disease with immunodeficiency and short stature.病例报告：由一种新的种系突变引起的心-面-皮肤综合征：一种伴有免疫缺陷和身材矮小的多方面疾病。
Front Pediatr. 2022 Oct 14;10:990111. doi: 10.3389/fped.2022.990111. eCollection 2022.
4
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.心脏-颜面-皮肤综合征与胃肠道缺陷：19p13.3缺失（包括MAP 2 K2基因）新生儿病例报告
Ital J Pediatr. 2022 May 4;48(1):65. doi: 10.1186/s13052-022-01241-6.
5
Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.心面皮肤综合征 - 33 年的病例纵向研究：病例报告及文献复习。
Rom J Morphol Embryol. 2021 Apr-Jun;62(2):563-568. doi: 10.47162/RJME.62.2.23.
6
Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.心面脂综合征伴 KRAS 基因突变致乳糜性心包积液
Am J Med Genet A. 2020 Mar;182(3):532-535. doi: 10.1002/ajmg.a.61448. Epub 2020 Jan 11.
Zotero 插件