Genotype and phenotype in hypochondroplasia
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference18 articles.
1. Recognisable patterns of human malformation;Smith,1982
2. Growth and growth hormone therapy in hypochondroplasia;Appan;Acta Paediatr Scand,1990
3. The gene for achondroplasia maps to the telomeric region of chromosome 4p;Velinov;Nature Genet,1994
4. A gene for achondroplasia-hypochondroplasia maps to chromosome 4p;Le Merrer;Nature Genet,1994
5. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism;Shiang;Cell,1994
Cited by 57 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. Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias;Genome Biology and Evolution;2024-02-01
2. Growth reference charts for children with hypochondroplasia;American Journal of Medical Genetics Part A;2023-10-09
3. Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant;Experimental and Clinical Endocrinology & Diabetes;2022-11-28
4. Activating mutations in FGFR3 are associated with clonal expansion events and high de novo rates in the male germline;2022-08-03
5. Growth Topics in FGFR3-Related Skeletal Dysplasias;Current Treatment Options in Pediatrics;2021-03-22
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