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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.

DOI:10.2147/PGPM.S442628
PMID:37904875
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10613423/
Abstract
摘要

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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.