MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9

Published:2023-05-01 Issue:3 Volume:32 Page:133-138
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Cinleti Tayfun¹,Gülen Ali²,Sönmez Beria¹,Gürsoy Semra¹,Boyacioğlu Özge Kangalli³,Asilsoy Suna³,Ulgenalp Ayfer²,Bozkaya Özlem Giray¹,Çağlayan Ahmet Okay²⁴

Affiliation:

1. Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics

2. Department of Medical Genetics, School of Medicine

3. Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Allergy and Immunology

4. Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylul University, Izmir, Turkey

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference14 articles.

1. Achalasia as a symptom guide in MIRAGE syndrome: a novel case with p.R1293Q and p.R902W variants in the SAMD9 gene.;Baquedano-Lobera;Clin Genet,2021

2. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.;Bluteau;Blood,2018

3. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.;Buonocore;J Clin Invest,2017

4. Current insights into adrenal insufficiency in the newborn and young infant.;Buonocore;Front Pediatr,2020

5. SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.;Davidsson;Leukemia,2018

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP