Macrodactyly in tuberous sclerosis complex: Case report and review of the literature

Author:

Soeiro e Sá Mariana1,Moldovan Oana1,Sousa Ana Berta1

Affiliation:

1. Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte; Centro Académico de Medicina de Lisboa; Lisbon Portugal

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Sturge-Weber syndrome with osteohypertrophy of maxilla;Babaji;Case Rep Pediatr,2013

2. Tuberous sclerosis associated with partial gigantism in a child;Colamaria;Brain Dev,1988

3. Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis;DeClue;Cell,1992

4. Macrodactyly in tuberous sclerosis;Ghali;Pediatr Dermatol,2001

5. Sturge-Weber syndrome: Soft-tissue and skeletal overgrowth;Greene;J Craniofac Surg,2009

Cited by 10 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. Macrodactyly as a rare manifestation of tuberous sclerosis;Pediatrics & Neonatology;2023-03

2. Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings;JID Innovations;2023-03

3. Tuberous Sclerosis;Musculoskeletal Imaging;2023

4. PIK3CA Mutational Analysis in Patients With Macrodactyly;Pediatric and Developmental Pathology;2022-10-31

5. Makrodaktylie;Orthopädie und Unfallchirurgie;2021-12-25

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