Isolated cytokine‐enriched pericardial effusion: A likely key feature for Aymé‐Gripp syndrome-Reference-Cited by-同舟云学术

Isolated cytokine‐enriched pericardial effusion: A likely key feature for Aymé‐Gripp syndrome

Published:2021-10-12 Issue:2 Volume:188 Page:624-627
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

König Anna‐Lina¹,Sabir Hemmen¹,Strizek Brigitte²,Gembruch Ulrich²,Herberg Ulrike³,Bertrand Miriam⁴,Grasshoff Ute⁴,Wiegand Gesa⁵,Wiechers Cornelia⁵,Bernis Eugenia¹,Reutter Heiko¹⁶^ORCID,Müller Andreas¹

Affiliation:

1. Department of Neonatology and Pediatric Intensive Care Medicine University Clinics of Bonn Bonn Germany

2. Department of Obstetrics and Prenatal Medicine University Clinics of Bonn Bonn Germany

3. Department of Pediatric Cardiology University Clinics of Bonn Bonn Germany

4. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

5. Department of Pediatric Cardiology, Intensive Care Medicine and Pulmonology University of Tübingen Tübingen Germany

6. Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatric and Adolescent Medicine University Hospital Erlangen Erlangen Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62540

Reference13 articles.

1. Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome

2. Amudhavalli S. M. Gadea R. Gripp K. Adam M. P. Ardinger H. H. &Pagon R. A. (2020).Aymé‐Gripp Syndrome.

3. Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool

4. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation

5. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation

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1. Massive pericardial effusion in an infant with Aymé–Gripp syndrome: A case report and review of the literature;American Journal of Medical Genetics Part A;2024-05-06

2. Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations;Genes;2023-09-27

3. An atypical Aymé‐Gripp phenotype detected by exome sequencing;American Journal of Medical Genetics Part A;2023-09-15