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Article

An atypical Aymé-Gripp phenotype detected by exome sequencing.

American journal of medical genetics. Part A - 1 Jan 2024

Caiazza Martina, Budillon Alberto, Monda Emanuele, Aruta Giustina, Esposito Augusto, Del Vecchio Blanco Francesca, Piluso Giulio, Nigro Vincenzo, Scarano Gioacchino, Limongelli Giuseppe

Abstract excerpt

Aymé-Gripp Syndrome (AGS) is an ultra-rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in MAF have been described to date. A significant effort is then required to expand the genotypic and phenotypic spectrum of this condition. In this paper, we...

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Identifiers

PMID: 37712597
DOI: 10.1002/ajmg.a.63406

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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