Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

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 - 1 Sept 2024

Esposito Arianna, Niceta Marcello, Novelli Antonio, Magliozzi Monia, Parlapiano Giovanni, Baban Anwar, Perrone Marco Alfonso

Abstract excerpt

Aymé-Gripp syndrome (AYGRPS) is a multisystemic disorder caused by a subset of pathogenic variants in the MAF gene. Major clinical features include bilateral early cataracts, sensorineural hearing loss (SNHL), and a characteristic facial appearance along with variable neurodevelopmental delay. Pericarditis resulting in pericardial effusion of varying degree has been observed in a subset of affected individuals...

Topics

Join the communities discussing this publication.

Cataract
Developmental Disabilities
Hearing Loss, Sensorineural
Infant, Newborn
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38709155
DOI: 10.1002/ajmg.a.63586

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature.PMID 38709155Read ↗

Genetic diseases underlying a spectrum of fetal effusionsSemantic proximity Read ↗

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.Semantic proximity Read ↗

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.Semantic proximity Read ↗

An atypical Aymé-Gripp phenotype detected by exome sequencing.Semantic proximity Read ↗

Variants in FGF10 cause isolated neonatal lung developmental disorderSemantic proximity Read ↗

PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.Semantic proximity Read ↗

Natural history and life-threatening complications in Myhre syndrome and review of the literature.Semantic proximity Read ↗

Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.Semantic proximity Read ↗

Ayme gripp syndrome in an Indian patient.Semantic proximity Read ↗

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.Semantic proximity Read ↗

Generation and mutational analysis of a transgenic murine model of the human MAF mutation.Semantic proximity Read ↗

Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.