Liver Involvement in Patients with Rare IMBOAT7/I 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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Veröffentlicht in:	Genes 2023-08, Vol.14 (8)
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Disease susceptibility Lipids Liver Liver diseases
Online-Zugang:	Volltext
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