Article
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Genes - 14 Dec 2022
Di Giosaffatte Niccolò, Ferraris Alessandro, Gaudioso Federica, Lodato Valentina, Savino Emanuele, Celletti Claudia, Camerota Filippo, Bargiacchi Simone, Laino Luigi, Majore Silvia, Bottillo Irene, Grammatico Paola
Abstract excerpt
In 2018, a new clinical subtype, caused by biallelic variants in the AEBP1 gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers-Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel AEBP1...
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