Adams–Oliver syndrome caused by mutations of the EOGT gene-Reference-Cited by-同舟云学术

Adams–Oliver syndrome caused by mutations of the EOGT gene

Published:2019-07-31 Issue:11 Volume:179 Page:2246-2251
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Schröder Kim C.¹^ORCID,Duman Duygu²³,Tekin Mustafa²⁴^ORCID,Schanze Denny¹,Sukalo Maja¹,Meester Josephina⁵,Wuyts Wim⁵,Zenker Martin¹^ORCID

Affiliation:

1. Institute of Human GeneticsUniversity Hospital Magdeburg Magdeburg Germany

2. Division of Pediatric Genetic Diseases, Department of PediatricsAnkara University Faculty of Medicine Ankara Turkey

3. Department of AudiologyAnkara University Faculty of Health Sciences Ankara Turkey

4. John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, and Department of OtolaryngologyUniversity of Miami Miller School of Medicine Miami Florida

5. Faculty of Medicine and Health Sciences, Center of Medical GeneticsUniversity of Antwerp and Antwerp University Hospital Antwerp Belgium

Funder

Fritz Thyssen Stiftung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61313

Reference15 articles.

1. HEREDITARY DEFORMITIES IN MAN

2. Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

3. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

4. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

5. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

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