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?

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 ch...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777638/
https://www.ncbi.nlm.nih.gov/pubmed/36553625
http://dx.doi.org/10.3390/genes13122358

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