Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs
2. Malpuech facial clefting syndrome in a Japanese boy with cardiac defects
3. Two sibs with Malpuech syndrome
4. Craniosynostosis and lid anomalies: Report of a girl with Michels syndrome
5. A Sibship with Unusual Anomalies of the Eye and Skeleton (Michels' Syndrome)
Cited by 15 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 COLEC10 mutation in a child with 3MC syndrome;European Journal of Medical Genetics;2021-12
2. Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach with review of the Literature;The Cleft Palate-Craniofacial Journal;2017-11
3. Developmental activities of the complement pathway in migrating neurons;Nature Communications;2017-05-02
4. The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data;Developmental Biology;2016-07
5. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome;Orphanet Journal of Rare Diseases;2015-09-30
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