Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome

Author:

Chen H.,Immken L.,Lachman R.,Yang S.,Rimoin D. L.,Rightmire D.,Eteson D.,Stewart F.,Beemer F. A.,Opitz J. M.,Gilbert E. F.,Langer L. O.,Shapiro L. R.,Duncan P. A.

Publisher

Wiley

Subject

Genetics(clinical)

Reference25 articles.

1. Evidence for autosomal recessive inheritance of costovertebral dysplasia

2. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship

3. Spondylo-thoracic Dysplasia in Three Sisters

4. The Pena-Shokeir syndrome: Report of five cases and further delineation of the syndrome

5. : Lethal form of multiple pterygium system. A prenatally diagnosable entity. Program and Abstracts of the 1982 Birth Defects Conference. The University of Alabama in Birmingham and the March of Dimes Birth Defects Foundation, 1982, p 94.

Cited by 79 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. Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis;Frontiers in Pediatrics;2023-09-07

2. Cardiac anomalies associated with Escobar syndrome;Medicine;2021-07-30

3. General Conditions Affecting the Bones;Pediatric Orthopedics and Sports Medicine;2020-11-25

4. Fetal Akinesia Deformation Sequence;Atlas of Genetic Diagnosis and Counseling;2017

5. Arthrogryposis Multiplex Congenita;Atlas of Genetic Diagnosis and Counseling;2017

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