Expanding the phenotypic spectrum of TP63 -related disorders including the first set of monozygotic twins-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Expanding the phenotypic spectrum of TP63 -related disorders including the first set of monozygotic twins

Published:2017-11-12 Issue:1 Volume:176 Page:75-81
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wenger Tara¹,Li Dong²,Harr Margaret H.²,Tan Wen-Hann³^ORCID,Pellegrino Renata²,Stark Zornitza⁴,Hakonarson Hakon²,Bhoj Elizabeth J.²^ORCID

Affiliation:

1. Division of Craniofacial Medicine; Seattle Children's Hospital; Seattle Washington

2. Center for Applied Genomics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Division of Genetics and Genomics Boston Children's Hospital; Harvard Medical School; Boston Massachusetts

4. Victorian Clinical Genetics Service; Parkville Victoria Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders;Aradhya;Genetics In Medicine,2012

2. Menkes disease with discordant phenotype in female monozygotic twins;Burgemeister;American Journal Of Medical Genetics Part A,2015

3. Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6;Busche;American Journal Of Medical Genetics Part A,2016

4. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome;Celli;Cell,1999

5. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome;Cole;American Journal Of Medical Genetics Part A,2009

Cited by 11 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. Ectodermal Dysplasias;Rook's Textbook of Dermatology;2024-02-20

2. Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES);Archives of Gynecology and Obstetrics;2023-08-03

3. Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency;Journal of Assisted Reproduction and Genetics;2023-07-15

4. Single-cell Transcriptome Landscape of DNA Methylome Regulators Associated with Orofacial Clefts in the Mouse Dental Pulp;The Cleft Palate Craniofacial Journal;2023-05-09

5. Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant;European Journal of Medical Genetics;2023-05

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