Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020-Reference-Cited by-同舟云学术

Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020

Published:2021-12-07 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Oliver Chris¹,Groves Laura¹,Hansen Blake D.²,Salehi Masoud³,Kheradmand Shaydah⁴,Carrico Cheri S.⁵,Caudill Patti⁶,Mattingly Mark⁷,Dorsett Dale⁸,Chea Stephenson⁹,Singh Vijay Pratap⁷,Krantz Ian D.¹⁰,Huisman Sylvia¹¹^ORCID,Deardorff Matthew A.¹⁰,Kline Antonie D.¹²^ORCID

Affiliation:

1. School of Psychology University of Birmingham Birmingham UK

2. Brigham Young University Provo Utah USA

3. Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine Baltimore Maryland USA

4. Master's in Genetic Counseling Training Program University of Maryland Baltimore Maryland USA

5. Communication Sciences and Disorders Elmhurst College Elmhurst Illinois USA

6. Milton J. Dance, Jr Head & Neck Center Baltimore Maryland USA

7. Stowers Institute for Medical Research Kansas City Missouri USA

8. Edward A. Doisy Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine Saint Louis Missouri USA

9. Department of Developmental and Cell Biology, and the Center for Complex Biological Systems University of California Irvine California USA

10. Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia, and Perelman School of Medicine at The University of Pennsylvania Philadelphia Pennsylvania USA

11. Department of Pediatrics, Amsterdam UMC University of Amsterdam, and Prinsenstichting Purmerend The Netherlands

12. Harvey Institute for Human Genetics Greater Baltimore Medical Center Baltimore Maryland USA

Funder

Cornelia de Lange Syndrome Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62591

Reference26 articles.

1. Report of the first case of precocious puberty in Rett syndrome

2. The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals

3. Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome

4. Speech‐language and audiological profile of Cornelia de Lange syndrome: A case report;Chowdhury K.;Language in India,2016

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