Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental...

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Detalles Bibliográficos
Autores principales: Ronzoni, Luisa, Mureddu, Matteo, Malvestiti, Francesco, Moretti, Vittoria, Bianco, Cristiana, Periti, Giulia, Baldassarri, Margherita, Ariani, Francesca, Carrer, Anna, Pelusi, Serena, Renieri, Alessandra, Prati, Daniele, Valenti, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454727/
https://www.ncbi.nlm.nih.gov/pubmed/37628684
http://dx.doi.org/10.3390/genes14081633

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