Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

Am J Med Genet B Neuropsychiatr Genet. 2020 Jan;183(1):3-4. doi: 10.1002/ajmg.b.32762. Epub 2019 Sep 11.

Authors

Ali Dursun¹, Dilek Yalnızoğlu², Rıza K Özgül³, Kader Karlı Oğuz⁴, Didem Yücel-Yılmaz³

Affiliations

¹ Hacettepe University Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey.
² Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara, Turkey.
³ Hacettepe University Institute of Child Health, Ankara, Turkey.
⁴ Hacettepe University Faculty of Medicine, Department of Radiology, Ankara, Turkey.

PMID: 31512396
DOI: 10.1002/ajmg.b.32762

No abstract available

Publication types

Letter
Comment

MeSH terms

Acyltransferases
Genetic Predisposition to Disease
Humans
Intellectual Disability*
Membrane Proteins / genetics
Polymorphism, Single Nucleotide

Substances

Membrane Proteins
Acyltransferases
MBOAT7 protein, human