The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33747/fullpdf
Reference20 articles.
1. A novel missense mutation in SCYL1BP1 produced geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations;Al-Dosari;Am J Med Genet Part A,2009
2. Geroderma osteodysplastica and wrinkly skin syndrome: Are they the same?;Al-Gazali;Am J Med Genet,2001
3. Detecting polymorphisms and mutations in candidate genes;Collins;Am J Hum Genet,2002
4. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2;Guernsey;Am J Hum Genet,2009
5. The De Barsy syndrome;Guerra;J Cutan Pathol,2004
Cited by 33 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. Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2;Molecular Genetics and Genomics;2024-08-22
2. Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10;American Journal of Medical Genetics Part A;2024-05-06
3. De Barsy syndrome due to ALDH18A1 mutation – Expanding the spectrum of a rare neurocutaneous syndrome;Human Gene;2024-05
4. Orthognathic Surgery with Interdisciplinary Digital Planning in Patients with Geroderma Osteodysplasticum: A Case Report;Journal of Personalized Medicine;2023-11-04
5. PYCR1: A Potential Prognostic Biomarker in Pancreatic Ductal Adenocarcinoma;Journal of Cancer;2022
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