A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel

Published:2016-01-01 Issue:9 Volume:29 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Parıltay Erhan^ORCID,Hazan Filiz,Ataman Esra,Demir Korcan,Etlik Özdal,Özbek Erhan,Özkan Behzat

Abstract

AbstractAarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2015-0482/pdf

Reference40 articles.

1. Anterior fontanel size;Indian Pediatr,1994

2. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?;Am J Med Genet A,2005

3. Cerebrovascular disease associated with Aarskog-Scott syndrome;Neuroradiology,2007

4. Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism;Am J Med Genet A,2011

5. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients;Eur J Hum Genet,2004

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report;Translational Pediatrics;2021-05

2. The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review;Genetics Research;2021-02-02

3. AARSKOG SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

4. Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature;Journal of Oral and Maxillofacial Surgery;2018-10

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

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3